Autoimmunthyreopathien bei Kindern und Jugendlichen mit Typ-1-Diabetes Häufigkeit und sinnvolles Screening

Background. Children and adolescents with type 1 diabetes are at increased risk for the development of autoimmune thyroid disease (Hashimoto thyroiditis and Grave's disease). Recommendations for screening have been very inconsistent. Method. Between 1996 and 1999, yearly determinations of serum TSH, fT4, fT3, thyroid peroxidase (TPO-) and thyroglobulin (Tg-) antibodies were done in 155 children and adolescents with diabetes. In those who were positive for thyroid antibodies and/or had a goiter thyroid sonography was performed. Specific therapy was instituted when overt hypo- or hyperthyroidism or subclinical hypothyroidism with goiter was present. No treatment was given to euthyroid patients who had positive thyroid antibodies but no goiter. Results. Between 1996 and 1999, autoimmune thyroiditis was diagnosed in 7 out of 155 children (all females). Hashimoto thyroiditis was present in 4, Grave's disease in 2 and thyroid antibody negative transient hyperthyroidism in one. Median age at diagnosis was 10.9 years, median duration of diabetes 3.1 years. The long-term course of thyroid autoantibody titers varied widely, there was no correlation with activity of hypo- or hyperthyroidism, predominant were TPO- antibodies. Four euthyroid children had elevated thyroid antibodies only, none developed a goiter or thyroid dysfunction so far. One child had subclinical hypothyroidism without thyroid antibodies and was treated with iodine. Of note were markedly increased HbA1c levels coincident with overt hyperthyroidism which decreased once euthyroidism was achieved. Conclusion. Routine screening for autoimmune thyroid disease in children and adolescents with diabetes is necessary. At onset of diabetes, thyroid function and antibodies should be determined to identify patients at risk. During follow-up, search for symptoms and signs of hypo- or hyperthyroidism or goiter as well as a determination of TSH once yearly is sufficient. If abnormal findings are present an extended work-up is necessary (see Fig. 1). Unexplained high HbA1c levels may be caused by unrecognised hyperthyroidism.     

Hypoglykämien im Kindesalter

Hypoglycemia in infancy and childhood needs a detailed investigation and adequate treatment. If not identified in a timely manner or treated insufficiently, it is a dangerous condition which has acute and long-term consequences, in particular developmental neurological deficits. The variety of disorders presenting with hypoglycemia is wide. The patient’s age at manifestation, a detailed medical history, fasting tolerance and clinical findings can reveal critical diagnostic evidence. Critical samples need to be obtained at the time of hypoglycemia. If these cannot be collected at the initial hypoglycemic episode, the hypoglycemia must be reproduced, sometimes requiring a controlled fasting test. Long-term treatment aims to prevent further hypoglycemic episodes and varies greatly from nutritional therapy to medication treatment based on the underlying disease.     

Somatische Entwicklung und Komplikationen bei Kindern mit langzeitparenteraler Ernährung in Deutschland

Zusammenfassung Die somatische Entwicklung und Komplikationsraten von 25 Patienten mit langzeitparenteraler Ernährung an 14 Kliniken in Deutschland wurden prospektiv erfasst.Methoden Datenerhebung am Beginn, in der Mitte und am Ende eines Zeitraums von 12 (3–20) Monaten, mit Erfassung von Diagnose, Alter bei Beginn der parenteralen Ernährung, Komplikationen, Körpergröße, body mass index (BMI) und Wachstumsgeschwindigkeit sowie der Werte für Bilirubin und Transaminasen.Ergebnisse Katheterassoziierte Komplikationen wurden einmal pro Patient und Jahr beobachtet (mechanische 0,46; septische 0,39 und thrombotische 0,15). Am Beginn (bzw. Ende) der Studie hatten 10 Patienten (12) normale Leberwerte (Gruppe N), 8 Patienten (6) eine Hepatopathie (Gruppe H) und 6 Patienten (3) eine Hepatopathie mit Hyperbilirubinämie (Gruppe HB). Vier Patienten konnten von der parenteralen Ernährung entwöhnt werden. Bei Beginn lagen Größe und BMI (SDS) im Median (25./75. Perzentile) in Gruppe HB bei –5,3 (–8,5/–4,3) und –2,9 (–3,6/0,1), in Gruppe H bei –2,4 (–4,5/–0,7) und 0,1 (–2,3/0,5) und in Gruppe N bei –2,15 (–3.2/–2,0) und –0,9 (–1,8/0,4). Die Wachstumsgeschwindigkeit (SDS) betrug in Gruppe HB –0,7 (–4,0/0,4), in Gruppe H –2,35 (–3,6/–1,0) und in Gruppe N –1,1 (–2,9/2,8). Nur Gruppe HB, mit relativ hoher parenteraler Energiezufuhr, zeigte einen signifikanten Anstieg (p<0,05) der SDS für Größe und BMI auf –3,6 (–4,5/–2,2) und 0,5 (–1,5/1,6) im Beobachtungszeitraum.Schlussfolgerungen Die Häufigkeit der Katheterkomplikationen liegt im oberen Bereich bereits publizierter Ergebnisse. Die mäßige somatische Entwicklung des untersuchten Kollektivs legt eine unzureichende Nährstoffzufuhr nahe. Da die orale Zufuhr meist ohne exakte Kalkulation wirklich aufgenommener und/oder resorbierter Nahrung erfolgt, ist möglicherweise dieser Anteil zu gering.

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Abkürzungen BMI body mass index - SDS standard deviation score     

Hypoglykämien aufgrund eines Glykogensynthasemangels

Summary We describe a patient who was admitted to hospital because of hypoglycemic convulsions at the age of 6 months. Diagnostics revealed that the hypoglycemic episodes were caused by glycogen synthase deficiency. Glycogen synthase deficiency its a rare cause of fasting hypoglycemia in childhood associated with normal production of ketone bodies. It is characterized by supranormal increase of glucose and lactate in blood after a meal or an oral glucose tolerance test. Diagnosis is confirmed by demonstration of a reduced activity of glycogen synthase in liver tissue, and lately also by identification of pathogenic mutations in the glycogensynthase gene (GYS2-gene). Hypoglycemic episodes can be prevented by offering frequent protein-rich meals during the day and a late evening meal with uncooked corn starch. Discussion: Glycogen synthase deficiency is nearly indistinguable from the relatively common ’ketotic hypoglycemia’ and is probably more common than is believed today. Therefore, one should include an oral glucose tolerance test in the diagnostic workup of ’ketotic hypoglycemia’ and if supranormal levels of glucose and lactate occur, molecular examination of the GYS2-gene is recommended.      

Intervallrehabilitation mit häuslichem Training bei Kindern mit Zerebralparese

Background

The goal of rehabilitation of children with cerebral palsy (CP) is to reduce sequelae and enhance function. Physiotherapy is a rehabilitative strategy for the treatment of patients with CP, but with little supporting evidence for the different treatment concepts. The Cologne Concept “Auf die Beine” combines interval rehabilitation with short and intensive in-patient stays with 6-month home-based whole body vibration training. In this article, we present gross motor function results after 6 months of training and an additional 6 months of follow-up.

Methods

Gross motor function was assessed with the Gross Motor Function Measure (GMFM). A total of 356 patients were evaluated using the GMFM-66 total score after 6 and 12 months and the GMFM-88 goal dimensions after 6 months.

Results

The GMFM-66 total score improved by 2.9 points (mean 3.35; p?<?0.001) after 6 months and by 0.2 points (mean 0.63; p?=?0.033) after 6 months of follow-up. Goal dimension A (lying) improved by 2.0?% (mean 3.8; p?=?0.001), B (sitting) by 3.3?% (mean 5.9; p?<?0.001), C (crawling) by 4.8?% (mean 6.7; p?<?0.001), D (standing) by 5.1?% (mean 8.0; p?<?0.001), and E (walking) by 2.8?% (median 4.6; p?<?0.001).

Conclusion

Interval rehabilitation combined with home-based training has a significant positive effect on gross motor function in patients with CP. The results were also sustained after 6 months of follow-up.     

Charakteristische Augenpartie, Fingerpolster und Hypoglykämien

Ohne Zusammenfassung

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Ethische Aspekte der Ernährungstherapie bei Kindern mit Demenzerkrankungen

Children with degenerative brain disorders leading to dementia frequently suffer from inadequate nutrition, which leads to avoidable morbidity. In later stages they lose the ability of eating and drinking. It must then be decided whether nutritional therapy can improve well-being or will just prolong life with a low quality. In a non-communicative child, the patient’s best interests must be assumed, which is only possible by the parents or a suitable representative. Rendering parents competent for vital decisions regarding their child is a difficult and lengthy process under the responsibility of a personally involved physician. We describe the necessary medical and other deliberations with the aim of giving practical hints to professional carers. Individual attitudes of families towards possible decisions are very variable and should be respected. We try to show how decisions to begin or stop artificial nutrition or to forgo it completely in a child with severe brain damage can be made in a way that is rationally and emotionally acceptable to those involved. Some of the deliberations also apply to other forms of brain damage in children.     

Pigmentnävi bei Kindern

Almost all fair-skinned children demonstrate one or more pigment nevi at the integument. These usually develop in the first two decades of life as a result of an endogenous disposition and exogenous stimulants. While most pigmented nevi are per se harmless, congenital and atypical (dysplastic) nevi are considered as precursors of melanoma and risk indicators. Although one normal nevus in isolation generally presents no risk, children and adults with multiple pigment nevi are at increased risk of developing a melanoma in the course of their life. Since the onset of pigment nevi is undisputedly triggered by ultraviolet light, appropriate prevention and protection is crucial. The differential diagnosis between nevus cell nevi and melanoma is particularly challenging, especially in the case of atypical nevi.     

Eislaufunfälle bei Kindern

Background

Ice skating is among the most popular winter sports in Austria. Consequently, it is also one of the main reasons for winter sport accidents. The aim of the presented project was to analyse ice-skating injuries in children in order to identify possibilities for prevention.

Methods

In the period covered, 103 children were admitted to our clinic after ice-skating injuries. Their clinical records were analysed. Furthermore, all patients were sent a standardised questionnaire to document etiology, safety equipment, transport to hospital, and skating experience in years.

Results

The main causes of accidents were collisions and falls. Most accidents occurred within the first 30 min of skating, and significantly more accidents happened on natural rather than artificial ice (p<0.01). Fractures were seen in 33%, and the other patients sustained lacerations, contusions, distorsions, or head injuries. Only 12.5% of all patients were using safety equipment.

Conclusion

To prevent accidents in the future, more children should wear protective gear, and they should be encouraged to skate on artificial rinks with good ice quality. Additionally, physical exercises before skating could perhaps reduce the number of accidents in the first minutes.     

Einwilligungsfähigkeit bei Kindern

Background. The present research on conceptions of children about illness is mainly related to the cognitive theory of Piaget. Thus, this theory was used as a basis to generate items which differentiate between children with an advanced and a less advanced understanding about illnesses. It is assumed that a concrete operational thinking is the minimum requirement for an informed assent by children to participate in a clinical trial, at least if easy decisions are required.Besides items on the understanding of illnesses, the standardized interview developed in this study contains additionally items on the capacity to remember medical information. Results of the study. One-hundred-forty children of grades 3 to 5 participated in the present study.The results show clear performance differences between children of grades 3 and 4, but no additional progress beyond this grade.Moreover, the results indicate effects of the school type with significant better performances in children with higher levels of school education. Illness experiences show a tendency to improve the understanding of illnesses in younger children.The results indicate that the competencies of grade 4 or 5 children may be sufficient to take part in easy decisions about participating in a clinical trial.Dependent on the type of school and the presence of illness experiences, these competencies may be acquired even earlier. Conclusion. This study has,however, to be seen as a pilot study and additional steps are needed to come to an improved interview version about the competencies of children in understanding illnesses and their consequences.     

Scooterunfälle bei Kindern

Background. Due to the increasing number of accidents associated with nonmotorized scooters we analysed mechanisms of injury, outcome and prevention strategies in our paediatric patients. Methods. Between July and October 2000 74 children were treated. Beside analysing patients charts, 67 of 74 (91%) families were interviewed by telephone in order to gain detailed information about the accident and the outcome. Results. 83% of the children fell due to minor unevenness of the riding surface, another 7% got caught in gratings covering sewer lines with the small wheels. Most frequent were head injuries, 13% had to be admitted to in-patient care. Discussion. The public awareness of the potential danger using a scooter should be increased. Moreover, the use of protective gear is widely not accepted. A change in the construction of the scooter (shock-absorbers, wider wheels) could effectively reduce the risk of an accident and prevent injuries.     

Herzgeräusche bei Kindern

In approximately 70?% of all children, a heart murmur is detected which turns out to be harmless in the majority of cases as only 1?% of children suffer from congenital heart defects. The experienced pediatrician is able to distinguish between harmless and pathologic heart murmurs; nevertheless, exclusion of underlying heart disease by a 12-lead ECG is recommended. Younger pediatricians should refer the child to a pediatric cardiologist for evaluation of the heart murmur. Critical heart defects in the neonatal period may be missed due to the lack of characteristic heart murmurs. Thus, neonatal screening using pulse oximetry may add important information in the diagnosis of life-threatening heart defects.     

Chronische hepatogene Hypoglykämie im Kindesalter

Zusammenfassung Es wird ein Fall von chronischer Hypoglykämie im Nüchternzustande beschrieben, welcher Fall seit Jahren beobachtet wird bei einem Knaben, der jetzt 10 Jahre alt ist. Diese Hypoglykämie ist kombiniert mit einer Ketosis. Der Junge macht den Eindruck eines Patienten mit Dystrophia adiposo-genitalis; er hat weiter eine sehr große Leber, die sich bereits im ersten Lebensjahre bei einer Probelaparotomie als sehr groß erwies. die chronische Hypoglykämie dieses Patienten unterscheidet sich dadurch von der großen Mehrheit der anderen beschriebenen Fälle chronischer Hypoglykämie, daß jedes anormale Symptom fehlt. Auch gibt es typische Unterschiede im Stoffwechsel mit anderen sporadisch beschriebenen Fällen chronischer hepatogener Hypoglykämie. Die vielen Versuche, angestellt, um zu einer klaren Einsicht der besonderen Stoffwechselstörung unseres Patienten zu kommen, werden ausführlich mitgeteilt. Das Bestehen eines Hyperinsulinismus kann mit ziemlicher Gewißheit ausgeschlossen werden; Adrenalin hatte schon in sehr kleinen Mengen einen sehr ungünstigen Einfluß auf die Ketosis. Betreffs der Ursache dieser Störung denken wir an das Fortbestehen eines fetalen Zustandes, und die Erklärung wird an erster Stelle gesucht in einer Störung des fermentativen Abbaus des Leberglykogens. Im Blute war der Glykogengehalt erhöht.Mit 2 Textabbildungen.