XO/XY-Geschlechtschromosomen-Mosaik bei einem Kind mit progressiver spinaler Muskelatrophie

Zusammenfassung Wir berichten über klinische und cytogenetische Befunde bei einem Kind mit progressiver spinaler Muskelatrophie und XO/XY-Geschlechts-chromoomen-Mosaik.Der 1jährige Junge zeigt eine deutliche statomotorische Entwicklungsverzögerung bei generalisierter Muskelhypotonie und erheblicher Bewegungsarmut. Er bietet eine Areflexie (PSR und ASR), Henkelstellung beider Arme und Zungenfasciculieren. Der Verdacht auf das Vorliegen einer progressiven spinalen Muskelatrophie Werdnig-Hoffmann wurde durch die Elektromyographie und Muskelbiopsie bestätigt.Lymphangiektatische Fußrückenpolster und Cutis laxa ließen an ein Turner-Syndrom denken. Das äußere Genitale was weitgehend unauffällig. Cytogenetisch wurde ein XO/XY-Mosaik aufgedeckt. Das Y-Chromosom konnte in diesem Fall durch die Darstellung des centromeren konstitutiven Heterochromatins mit Hilfe der C-Banden-Technik identifiziert werden.Zusammenhänge zwischen Chromosomenaberrationen und neuro-muskulären Erkrankungen werden diskutiert. Die Kombination chromosomaler und neuro-muskulärer Störungen scheint zufällig. Ein kausaler Zusammenhang läßt sich nicht aufdecken.

---

XO/XY-sex-chromosomes-mosaicism in a child with progressive spinal muscular atrophy

We report clinical and cytogenetical findings in a child with progressive spinal muscular atrophy and XO/XY mosaicism.The patient, 1 year old, shows a distinct motor retardation with generalized muscular hypotonia and paucity of movements. There are no deep tendon reflexes of the lower extremities, the position of the arms is reminiscent of a frog and the tongue is fasciculating. The suspicion of progressive muscular atrophy, of the Werdnig-Hoffmann type is confirmed by electromyography and muscle biopsy.Lymphangiectatic edema of the dorsal surface of the feet suggested Turner's syndrome. The external genitalia were unremarkable. We found XO/XY mosaicism. The Y chromosome was identified in this case by demonstration of the centromeric constitutive heterochromatin with C-banding method.Possible connections between chromosomal aberrations and neuromuscular diseases are discussed. The combination of chromosomal and neuromuscular defects appears to be coincidental. No causal relationship could be proved.

Die cytogenetischen Untersuchungen wurden mit Unterstützung durch die Deutsche Forschungsgemeinschaft durchgeführt.     

Development and evaluation of an ADHD teacher group training--a pilot study

In the introduction is shown that no controlled studies of teacher training programs in children with Attention Deficit Hyperactivity Disorder (ADHD) have been published in German research literature as yet in spite of high demand for educational inservice training. The aim of the present study is the development and evaluation of a two-step ADHD teacher group training. In step 1 a group training (12 h) was performed with 18 advisory teachers. The curriculum included ADHD theory, contingency management and "antecedent" TEACCH-oriented school-based interventions (Schopler 1997; Bregman and Gerdtz 1997). In step 2 then a subsample of 6 advisory teachers supervised 10 classroom teachers of 11 primary school students (mean age 8.6 yrs.) with ADHD symptoms, who were assigned to two experimental groups. The classroom teachers of the Standard Treatment Group (n=5 students) received the basic module "ADHD theory and school-based interventions" (6 h), the teachers of the Intensive Treatment Group (n=6 students) received the same basic module plus the module "Student-related training in Contingency Management" (in total 14h). The group training process was evaluated by teacher satisfaction ratings and knowledge test. The training effect on student behavior was evaluated by teacher ratings within a two-group-pre-post-follow-up design. The main results are: (a) The group training process was mostly evaluated favorably; knowledge increased significantly; (b) ADHD symptoms were reduced significantly in both treatment groups, with stronger and sustained improvement of problem behaviors and adaptive functioning in the Intensive Treatment Group. These findings provide some consistent evidence, that classroom behaviors of children with ADHD symptoms can be improved substantially by a teacher mediator training approach.