Überleben, medizinische Betreuung und Lebensqualität von Kindern mit Trisomie 13 und 18

Zusammenfassung

Hintergrund: Kinder mit Trisomie 13 (T13) und Trisomie 18 (T18) sterben in der Regel früh, die Beratung ihrer Eltern erfordert möglichst detaillierte Informationen zu Lebenserwartung und Lebensqualität.

Methode: Retrospektive Analyse der an der Kinderklinik der Freien Universität Berlin (1980–1995) bzw. der Charité (1995–2010) behandelten Neugeborenen mit zytogenetisch diagnostizierter T13-oder T18. Mütter von T13-oder T18-Kindern, die mindestens 3 Monate gelebt hatten, wurden gebeten, Fragebögen zur psychomotorischen Entwicklung und Lebensqualität ihrer Kinder auszufüllen und die erfahrene medizinische Betreuung in einem Interview darzustellen.

Ergebnisse: Bei 18 Kindern mit T13 und 18 Kindern mit T18 betrug die mittlere Überlebenszeit 5 Tage (T13) bzw.19 Tage (T18), bei 2 bzw. 3 T13/T18-Kindern fehlten die Angaben. Ein T13 und 2 T18-Kinder lebten länger als ein Jahr. Von den Müttern der 5 Kinder, die mindestens 3 Monate alt geworden waren (3x T13, 2x T18), schilderten 4 ihre Kinder als freundlich und ausgeglichen. Diese Mütter berichteten über Entwicklungsfortschritte und bejahten aktiv die zahlreichen stationären und ambulanten medizinischen Maßnahmen. Bedauert wurde das Fehlen einer zentralen ärztlichen Führung und einer aktiv angebotenen psychologischen Betreuung.

Schlussfolgerung: Mehr als ein Zehntel der Kinder mit T13 oder T18 leben mehr als 3 Monate, ihre Lebensqualität wird von den Müttern überwiegend positiv bewertet.

Abstract

Background: While infants with trisomy 13 (T13) and trisomy 18 (T18) are known to die early, parents want to know more about life expectancy and quality of life.

Methods: 30-year single-center retrospective chart analysis (1980–2010) of cytogenetically confirmed T13 and T18 cases. Mothers of infants who had lived 3 months or longer were approached to judge their infant’s quality of life and talk about their experiences with medical staff.

Results: Data of 18/20 T13 infants and 18/21 T18 infants could be retrieved. Median survival times were 5 d for T13 and 19 d for T18. One T13 and 2T18 children survived past 1 year. Out of 5 mothers whose infants had survived at least 3 months, 4 described their infant as friendly, happy and peaceful. They observed some degree of psychomotor development and were in favour of the numerous medical and surgical interventions performed. They wished to have had a doctor coordinating these interventions and missed an active offer for psychological help.

Conclusion: While most infants with T13 or T18 die as neonates, mothers of infants surviving longer periods of time have positive memories about their infants’ quality of life.

Schlüsselwörter

Edwards-Syndrom - Pätau-Syndrom - Beratung - psychomotorische Entwicklung - individuelle medizinische Betreuung

Key words

trisomy 13 - trisomy 18 - median survival - psychomotor development - quality of life

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