Neuropediatrics 2013; 44 - PS14_1147
DOI: 10.1055/s-0033-1337789

Loss of speech in late-infantile and juvenile metachromatic leukodystrophy

C Kehrer 1, S Gröschel 1, I Krägeloh-Mann 1
  • 1Klinik für Kinder- und Jugendmedizin, Abt. Neuropädiatrie und Entwicklungsneurologie, Tübingen, Germany

Aims: The aim of the present study was to provide natural course data concerning decline of speech of late-infantile and juvenile metachromatic leukodystrophy (MLD).

Methods: Patients with MLD were recruited nationwide within the scope of the German research network LEUKONET by contacting laboratories and patients' organizations. The data source consisted of hospital records and standardized patient questionnaires, and parents were periodically interviewed by telephone. Data of 59 patients were analyzed, 23 with a late-infantile, and 36 with a juvenile form of MLD.

Results: Medians (and ranges) of age of onset were 17 (9 to 27) months for the late-infantile group and 76 (32 to 162) months for the juvenile group. Speech decline occurred with a median time after onset of 12 months in the late-infantile form and 24 months in the juvenile form (p = 0.0445). Complete loss of expressive speech occurred with a median time after onset of 15 months in the late-infantile form and 72 months in the juvenile form (p < 0.0001). Kaplan-Meyer analysis showed a higher variability in the juvenile group, concerning the begin of speech decline as well as the time of the complete loss of expressive speech.

Conclusion: In late-infantile patients, the time between first language difficulties and loss of speech was only few months. This steep speech decline was even faster than groß motor decline, which was reported to take place within a median of 15 months. In juvenile patients, decline in linguistic abilities as well as complete loss of speech occurred significantly later and showed a higher variability and in the median less steep decline compared with the late-infantile group.

The here shown data reflect the natural course of speech in late-infantile and juvenile MLD in a large cohort over a long-term observation. A better knowledge of the natural disease course may lead to earlier diagnosis and optimize defining criteria for therapies. It is as well a prerequisite for the evaluation of clinical outcome after intervention.