Using artificial intelligence-based technologies to detect clinically relevant changes of gross motor function in children with cerebral palsy.

AIM: To compare the 66-item Gross Motor Function Measure (GMFM-66) with the reduced version of the GMFM-66 (rGMFM-66) with respect to the detection of clinically relevant changes in gross motor function in children with cerebral palsy (CP). METHOD: The study was a retrospective single centre analysis of children with CP who participated in a rehabilitation programme. Overall, 1352 pairs of GMFM-66 and rGMFM66 measurements with a time interval of 5 to 7 months were available. To measure clinically relevant changes in gross motor function, the individual effect size (iES) was calculated. RESULTS: The study population consisted of 1352 children (539 females), mean age 6 years 4 months (SD 2 years 4 months). The iES based on the GMFM-66 and the rGMFM-66 showed a significant correlation (r = 0.84, p < 0.001). The analysis of the area under the receiver operating characteristic curve showed an excellent agreement for clinically relevant gross motor improvement (Cohen's d ≥ 0.5; area under the curve = 0.90 [95% confidence interval 0.88-0.92]) or deterioration (Cohen's d ≤ -0.5; area under the curve = 0.95 [95% confidence interval 0.92-0.97]). INTERPRETATION: Performing the rGMFM-66 saves time compared to the full GMFM-66. The rGMFM-66 showed good agreement with the GMFM-66 with respect to the detection of clinically relevant changes in gross motor function in children with CP, so its use in everyday clinical practice seems justifiable. WHAT THIS PAPER ADDS: The reduced version of the 66-item Gross Motor Function Measure (rGMFM-66) detects clinically relevant changes in gross motor function in children with cerebral palsy. The rGMFM-66 correlates highly with the full GMFM-66. The rGMFM-66 can be used in clinical practice when the time schedule is limited.

Cutis marmorata telangiectatica congenita being caused by postzygotic GNA11 mutations.

Cutis marmorata telangiectatica congenita (CMTC) is characterized by coarse-meshed capillary malformations arranged in asymmetrically distributed patches. The disorder may be associated with hyper- or hypoplastic limbs, syndactyly, cleft palate, and glaucoma. Because the disease usually occurs sporadically, the concept of a lethal mutation surviving by mosaicism was proposed about 30 years ago. Here we describe three children with CMTC due to a postzygotic GNA11 mutation c547C > T (p.Arg183Cys), documented in saliva (patient 1) or lesional cutaneous tissue (patients 2 and 3). All three individuals had widespread and asymmetric CMTC which was present from birth and became fainter during the first years of life. Variably associated anomalies included glaucoma, choroidal capillary malformation, and body asymmetry. In previous case reports, postzygotic GNA11 mutations were documented in two cases of phacomatosis cesiomarmorata, being characterized by CMTC coexisting with segmental dermal melanocytosis. Moreover, postzygotic GNA11 mutations were noted in two CMTC patients described under the incorrect diagnosis of "nevus vascularis mixtus". Hence, the present cases convincingly support the concept that CMTC can be caused by mosaic GNA11 mutations and thus belongs to the GNA11-Related Capillary Nevus (GNARCAN) spectrum. In two other bona fide cases of CMTC, however, we were unable to find a mutation in GNA11, which may be explained either by our inability to detect a very low percentage of mutant cells or by genetic heterogeneity of the phenotype.

Impact of motor skills on cognitive test results in very-low-birthweight children.

Standardized tests that are frequently used to evaluate the cognitive development of very-low-birthweight children often appear to measure motor ability as well as cognitive skills. To estimate the impact of motor skills on individual test performance among very-low-birthweight children of kindergarten age, we employed factor analysis in a sample of 298 very-low-birthweight children that included severely disabled children. Using a test battery designed to measure concentration, language skills, overall cognitive development, visuomotor abilities, and memory, we identified two factors in each of three diagnostic subgroups: unimpaired children (n = 184), clumsy children (n = 56), and children with cerebral palsy (n = 33). Based on the pattern of factor loadings, we interpret the first factor as capturing language and overall cognitive abilities, whereas the second factor appears to capture motor abilities. Language skills explained 49% and motor abilities accounted for 16% of the overall variance of the individual test results. Among children with attention deficit (n = 25), a third factor emerged. In these children, we interpret the first factor as capturing language or cognitive skills, the second as representing visuomotor skills, and the third as a quantifier of the ability to concentrate. The test battery tested the same abilities in impaired and unimpaired children; however, these were not always the abilities that the battery aimed to test. Future studies need to evaluate whether factor scores only for cognitive but not motor abilities might be useful outcome variables.