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We aimed to translate the Caregiver Priorities and Child Health Index of Life with Disabilities (CPCHILD) questionnaire into German and to evaluate its reliability and validity by studying the association between CPCHILD scores and gross motor function as measured by the gross motor function classification system (GMFCS) in children with cerebral palsy (CP). The original CPCHILD questionnaire and manual were translated and back translated. It was administered to primary caregivers of persons with CP (GMFCS levels III–V) and was completed a second time 2 weeks after the first to measure test–retest reliability ( n = 17). Primary caregivers of 68 children with CP; GMFCS level III ( n = 14), level IV ( n = 28), and level V ( n = 26) completed the questionnaire. Mean total CPCHILD scores across GMFCS levels were 67.1 ± 14.9 for GMFCS level III, 56.6 ± 11.8 for level IV, and 44.3 ± 12.9 for level V. Good correlation ( r = − 0.56) was observed between GMFCS and total scores test–retest reliability showed intraclass correlation coefficients between 0.4 and 0.9. The German CPCHILD yielded similar test–retest reliability and score distributions across the GMFCS level as the original version. The best correlations were observed for domains that are close to the functional deficits.

Aims: Macrocerebellum is a very rare finding and implies an abnormally large cerebellum. Only few patients with a syndromal or isolated macrocerebellum have been reported so far. We aim to evaluate the MRI spectrum, objectify the macrocerebellum by volumetric analysis, characterize neurological/dysmorphic features and cognitive outcome and report genetic analysis. Methods: All images were qualitatively evaluated for infra- and supratentorial abnormalities. A volumetric analysis was performed using MRI Studio software. Data about neurological and dysmorphic features, outcome and genetic analysis were collected from clinical history and follow-up examination. Results: 5 children were included (median age 2.5 years, range 1–3 years; 3 males, 2 females). The volumetric analysis in 3 patients confirmed the increased cerebellar size compared to age matched controls (in the 2 other patients the volumetric analysis could not be performed). The MRI evaluation showed that an enlargement of the cortical gray matter of the cerebellar hemispheres was mainly contributing to the macrocerebellum. Different additional infra- and supratentorial abnormalities were present in all patients. Muscular hypotonia, ocular movement disorders and impaired motor and cognitive development were found in all children. 3 of 5 patients suffered from epileptic seizures. The 5 children differed significantly in terms of dysmorphic features and involvement of extra-cerebral organs. Chromosomal anomalies were found in 2 patients (a deletion and a duplication on different chromosomes). Conclusion: Based on the literature and our study, all patients with a macrocerebellum have variable impairments in motor and cognitive development. However, the additional neuroimaging findings, dysmorphic features, involvement of extra-cerebral organs and genetic results are highly heterogeneous, suggesting that macrocerebellum is not a clinical and neuroimaging entity.

Objective: Noonan syndrome (NS; OMIM 163950) is a developmental disorder characterized by short stature, congenital heart defects, facial anomalies and variable learning deficits. NS is caused by activating mutations in various components of the RAS-MAPK pathway. Recent in vitro studies demonstrated impairment of synaptic plasticity caused by RAS-MAPK pathway hyperactivity. We therefore intended to find a clue to synaptic plasticity in patients with NS. Methods: We investigated 8 patients with Noonan syndrome and an age and gender matched control group using paired associative stimulation (PAS). Changes in MEP amplitudes were assessed immediately after as well as 30 and 60 minutes after PAS. Results: We demonstrated that MEP amplitudes of healthy controls significantly increased from 1.03±0.18 to 1.81±0.61 mV (p=0.006), which was not seen in patients with Noonan-Syndrome (0.88±0.1 to 1.2±0.49 mV, p=0.103) and that there was a significant difference between both groups 60min after PAS (p=0.044). Conclusions: Our study provides first evidence that synaptic plasticity is impaired in patients with NS which is probably a consequence of constitutive activity of the RAS-MAPK pathway. Significance: This is the first study that indicated impaired synaptic plasticity in patients with a RAS-pathway disorder.