Appbasierte Förderansätze für Kinder mit Lernstörungen

Hintergrund: Einstellungen zu digitalen Fördermaßnahmen wurden bislang hauptsächlich aus der Sicht von Lehrkräften untersucht, obwohl das Lernen mit digitalen Hilfsmitteln im häuslichen Umfeld an Bedeutung gewinnt. Deshalb wird der Frage nachgegangen, wie Angehörige/Eltern von Kindern mit Lernstörungen (= KmL: Rechenstörung, Lesestörung bzw. kombinierte Lernstörung) die Förderung mit Trainings-Apps via Tablet in der häuslichen Umgebung erleben und was für sie in diesem Kontext wichtig ist. Methoden: Mithilfe leitfadengestützter Expert_inneninterviews wurden 21 Angehörige von KmL und zwei Projektbegleiterinnen, die im regelmäßigen Austausch mit den Angehörigen standen, interviewt; zusätzlich wurden mit einem schriftlichen Fragebogen qualitative Datensätze zum Lernerleben mit den Apps sowie zur allgemeinen Wahrnehmung der Apps aus der Perspektive von 1) KmL (n = 83), welche die Trainings-App genutzt haben, und 2) weiteren Angehörigen (n = 81) erhoben. Ergebnis: Durch qualitative Analysen wurden Gelingensbedingungen (z.B. das Engagement der Angehörigen), aber auch Herausforderungen für die Verwendung von Trainings-Apps (z.B. technische Schwierigkeiten, Missverständnisse, Qualität der Stimmausgabe, als unpassend empfundener Schwierigkeitsgrad) herausgearbeitet. Diskussion: Aktuell wird das Training wahlweise als zu schwer, zu leicht oder zu ausufernd wahrgenommen. Um hier eine individuelle Passung zu erreichen, ist weitere Forschung sowie Entwicklung notwendig.Background: While learning with digital tools gains increasing importance, attitudes towards digital intervention tools have so far mainly been investigated from the perspective of teachers. Therefore, the question is investigated how relatives/parents of children with specific educational learning disorders (= CwLD: dyscalculia, reading disorder or combined learning disorder) experience the support with training apps via tablet in their home environment and what is important for them in this context. Methods: Using guideline-based expert interviews, 21 relatives of CwLD and two female employees, who worked as technical support and were in regular contact with the relatives, were interviewed; in addition, a questionnaire was used to collect qualitative data sets on the learning experience with the apps and on the general perceptions of the apps from the perspective of 1) the CwLD (n = 83) who used the training app and 2) other relatives (n = 81). Results: With qualitative analyses conditions for success (e.g., engagement of relatives) but also limitations to the use of training apps (e.g., technical difficulties, misunderstandings, voice output, perceived inappropriateness of training difficulty) were identified. Discussion: Currently, training is perceived as either too difficult, too easy, or too extensive. To achieve an individual fit, further research and development is necessary

Prospective evaluation of NGS-based sequencing in epilepsy patients: results of seven NASGE-associated diagnostic laboratories

BackgroundEpilepsy is one of the most common and disabling neurological disorders. It is highly prevalent in children with neurodevelopmental delay and syndromic diseases. However, epilepsy can also be the only disease-determining symptom. The exact molecular diagnosis is essential to determine prognosis, comorbidity, and probability of recurrence, and to inform therapeutic decisions.Methods and materialsHere, we describe a prospective cohort study of patients with epilepsy evaluated in seven diagnostic outpatient centers in Germany. Over a period of 2 months, 07/2022 through 08/2022, 304 patients (317 returned result) with seizure-related human phenotype ontology (HPO) were analyzed. Evaluated data included molecular results, phenotype (syndromic and non-syndromic), and sequencing methods.ResultsSingle exome sequencing (SE) was applied in half of all patients, followed by panel (P) testing (36%) and trio exome sequencing (TE) (14%). Overall, a pathogenic variant (PV) (ACMG cl. 4/5) was identified in 22%; furthermore, a significant number of patients (12%) carried a reported clinically meaningful variant of unknown significance (VUS). The average diagnostic yield in patients ≤ 12 y was higher compared to patients >12 y cf. Figure 2B vs. Figure 3B. This effect was more pronounced in cases, where TE was applied in patients ≤ 12 vs. >12 y [PV (PV + VUS): patients ≤ 12 y: 35% (47%), patients > 12 y: 20% (40%)]. The highest diagnostic yield was achieved by TE in syndromic patients within the age group ≤ 12 y (ACMG classes 4/5 40%). In addition, TE vs. SE had a tendency to result in less VUS in patients ≤ 12 y [SE: 19% (22/117) VUS; TE: 17% (6/36) VUS] but not in patients >12 y [SE: 19% (8/42) VUS; TE: 20% (2/10) VUS]. Finally, diagnostic findings in patients with syndromic vs. non-syndromic symptoms revealed a significant overlap of frequent causes of monogenic epilepsies, including SCN1A, CACNA1A, and SETD1B, confirming the heterogeneity of the associated conditions.ConclusionIn patients with seizures—regardless of the detailed phenotype—a monogenic cause can be frequently identified, often implying a possible change in therapeutic action (36.7% (37/109) of PV/VUS variants); this justifies early and broad application of genetic testing. Our data suggest that the diagnostic yield is highest in exome or trio-exome-based testing, resulting in a molecular diagnosis within 3 weeks, with profound implications for therapeutic strategies and for counseling families and patients regarding prognosis and recurrence risk

N-Propionylmannosamine stimulates axonal elongation in a murine model of sciatic nerve injury

Increasing evidence indicates that sialic acid plays an important role during nerve regeneration. Sialic acids can be modified in vitro as well as in vivo using metabolic oligosaccharide engineering of the N-acyl side chain. N-Propionylmannosamine (ManNProp) increases neurite outgrowth and accelerates the reestablishment of functional synapses in vitro. We investigated the influence of systemic ManNProp application using a specific in vivo mouse model. Using mice expressing axonal fluorescent proteins, we quantified the extension of regenerating axons, the number of regenerating axons, the number of arborising axons and the number of branches per axon 5 days after injury. Sciatic nerves from non-expressing mice were grafted into those expressing yellow fluorescent protein. We began a twice-daily intraperitoneal application of either peracetylated ManNProp (200 mg/kg) or saline solution 5 days before injury, and continued it until nerve harvest (5 days after transection). ManNProp significantly increased the mean distance of axonal regeneration (2.49 mm vs. 1.53 mm; P < 0.005) and the number of arborizing axons (21% vs. 16%; P = 0.008) 5 days after sciatic nerve grafting. ManNProp did not affect the number of regenerating axons or the number of branches per arborizing axon. The biochemical glycoengineering of the N-acyl side chain of sialic acid might be a promising approach for improving peripheral nerve regeneration

N-Propionylmannosamine stimulates axonal elongation in a murine model of sciatic nerve injury

Increasing evidence indicates that sialic acid plays an important role during nerve regeneration. Sialic acids can be modified in vitro as well as in vivo using metabolic oligosaccharide engineering of the N-acyl side chain. N-Propionylmannosamine (ManNProp) increases neurite outgrowth and accelerates the reestablishment of functional synapses in vitro. We investigated the influence of systemic ManNProp application using a specific in vivo mouse model. Using mice expressing axonal fluorescent proteins, we quantified the extension of regenerating axons, the number of regenerating axons, the number of arborising axons and the number of branches per axon 5 days after injury. Sciatic nerves from non-expressing mice were grafted into those expressing yellow fluorescent protein. We began a twice-daily intraperitoneal application of either peracetylated ManNProp (200 mg/kg) or saline solution 5 days before injury, and continued it until nerve harvest (5 days after transection). ManNProp significantly increased the mean distance of axonal regeneration (2.49 mm vs. 1.53 mm; P < 0.005) and the number of arborizing axons (21% vs. 16% P = 0.008) 5 days after sciatic nerve grafting. ManNProp did not affect the number of regenerating axons or the number of branches per arborizing axon. The biochemical glycoengineering of the N-acyl side chain of sialic acid might be a promising approach for improving peripheral nerve regeneration

Phase I Evaluation of the information pages of londi.de, a Website for Learning Disorders for Parents and Learning Therapists

The project aims to evaluate the londi.de informational website for two target audiences: parents of children with learning disorders and learning therapists. The website gives informational coverage of different aspects of learning disorders. The evaluation is planned and executed according to the RE-AIM framework that is frequently used to evaluate different kinds of interventions. The results of the evaluation will be used for further optimization of the website

Spelling Error Detection : A Valid and Economical Task for Assessing Spelling Skills in Elementary-School Children

The ability to spell words correctly is a key competence for educational and professional achievement. Economical procedures are essential to identifying children with spelling problems as early as possible. Given the strong evidence showing that reading and spelling are based on the same orthographic knowledge, error-detection tasks (EDTs) could be considered such an economical procedure. Although EDTs are widely used in English-speaking countries, the few studies in German-speaking countries investigated only pupils in secondary school. The present study investigated N = 1,513 children in elementary school. We predicted spelling competencies (measured by dictation or gap-fill dictation) based on an EDT via linear regression. Error-detection abilities significantly predicted spelling competencies (R² between .509 and .679), indicating a strong connection. Predictive values in identifying children with poor spelling abilities with an EDT proved to be sufficient. Error detection for the assessment of spelling skills is therefore a valid instrument for transparent languages as well.Rechtschreibung zählt zu den Schlüsselkompetenzen für schulischen und beruflichen Erfolg. Um Kinder mit Rechtschreibproblemen adäquat zu unterstützen, ist eine frühe, möglichst niederschwellige Diagnostik essenziell. Aufgaben, in denen Rechtschreibfehler in präsentierten Texten zu identifizieren sind, könnten derartige ökonomische Verfahren darstellen. Obgleich Fehleridentifikationstests im angloamerikanischen Sprachraum weit verbreitet sind, haben sich die wenigen Studien im deutschsprachigen Raum bisher ausschließlich mit Kindern der Sekundarstufe beschäftigt. Die vorliegende Arbeit untersuchte in vier unabhängigen Studien N = 1.513 Grundschulkinder. Mittels linearer Regressionen wurden Rechtschreibkompetenzen (erhoben durch Fließ- und Lückendiktate) durch Leistungen in Fehleridentifikationstests vorhergesagt. Leistungen im Fehleridentifikationstest sagten Rechtschreibkompetenzen in allen Studien signifikant voraus (R² zwischen .509 und .679), was eine starke Assoziation der beiden Maße belegt. Prädiktive Werte zur Identifikation von Kindern mit schwachen Rechtschreibleistungen durch den Fehleridentifikationstest waren gut. Fehleridentifikation als Maß für Rechtschreibkompetenzen ist damit ein valides Instrument nicht nur für den angloamerikanischen Sprachraum, sondern auch für transparente Sprachen