Developmental coordination disorder subtypes in children: An unsupervised clustering.

AIM: To identify subtypes of developmental coordination disorder (DCD) in children. METHOD: Children with DCD diagnosed through comprehensive evaluation at Robert-Debré Children's University Hospital (Paris, France) were consecutively enrolled from February 2017 to March 2020. We performed an unsupervised hierarchical clustering based on principal component analysis using a large set of variables encompassing cognitive, motor, and visuospatial scores (Wechsler Intelligence Scale for Children, Fifth Edition; Developmental Neuropsychological Assessment, Second Edition; Movement Assessment Battery for Children, Second Edition). RESULTS: One hundred and sixty-four children with DCD were enrolled (median age 10 years 3 months; male:female ratio 5.56:1). We identified distinct subgroups with mixed visuospatial and gestural disorders, or with pure gestural disorders that predominantly impaired either speed or precision. Associated neurodevelopmental disorders, such as attention-deficit/hyperactivity disorder, did not influence the results of the clustering. Importantly, we identified a subgroup of children with marked visuospatial impairment with the lowest scores in almost all of the evaluated domains, and the poorest school performance. INTERPRETATION: The classification of DCD into distinct subgroups could be indicative of prognosis and provide critical information to guide patient management, taking into account the child's neuropsychological profile. Beyond this clinical interest, our findings also provide a relevant framework with homogeneous subgroups of patients for research on the pathogenesis of DCD. WHAT THIS PAPER ADDS: Unsupervised hierarchical clustering identified four subgroups of children with developmental coordination disorder. Two subgroups had combined visuospatial/gestural difficulties, and two had pure gestural disorders. Severe visuospatial impairment was associated with poor performance in most domains including school. Difficulties in the gestural-only clusters were predominantly either gestural precision or speed.

Determining factors of the cognitive outcome in early treated PKU: A study of 39 pediatric patients.

Phenylketonuria (PKU) is a disorder of phenylalanine metabolism, characterized by a neurotoxic phenylalanine (Phe) accumulation, and treatable with a life-long Phe-restricted diet. Though early and continuously treated PKU (ETPKU) patients exhibit normal IQ, their cognitive outcome remains suboptimal. In this longitudinal study, we aimed at assessing the determinants of IQ subscales and quality of metabolic control in ETPKU children. We collected blood Phe levels, numbers of blood samples for Phe determination, parents' socio-professional categories and school achievement data of 39 classical and moderate ETPKU patients who underwent two cognitive evaluations performed by the same neuropsychologist (at 6.5 and 10y of mean age). We then sought to evaluate the determinants of 1) the changes in their IQ between the two testings (delta IQ) and 2) the quality of metabolic control (evaluated by the median Phe levels during the year before the second test) with multivariate regression analysis. Though in the normal range, mean total IQ slightly decreased between the two evaluations, and we observed a better verbal than performance outcome. Modeling the determining factors of the delta IQ, we found a significant influence of the number of blood samples (ß = 0.46, 95%CI = 0.13 to 0.79, p < 0.01) and the moderate type of PKU (ß = 12.40, 95%CI = 3.69 to 21.11, p < 0.01) on verbal outcome. We failed to find any determining factors that would statistically influence metabolic control. In conclusion, ETPKU cognitive outcome is influenced by a network of metabolic and environmental factors, which is not reflected by the sole metabolic control.

Postnatal clinical and imaging follow-up of infants with prenatal isolated mild ventriculomegaly: a series of 101 cases.

BACKGROUND: Postnatal imaging and clinical outcome of fetuses with isolated mild ventriculomegaly (IMV) have never been systematically analysed. OBJECTIVE: To evaluate the postnatal clinical outcomes of a large cohort of fetuses with IMV and to correlate them with pre- and postnatal imaging. MATERIALS AND METHODS: We report a prospective study of 101 fetuses with IMV (10-15 mm ventriculomegaly with otherwise normal US, MRI, karyotype and TORCH screening). IMV was divided into minor (10-11.9 mm) and moderate (12-15 mm) ventriculomegaly. Ventriculomegaly was considered uni- or bilateral, stable, progressive, regressive or resolved according to the prenatal US follow-up. Clinical follow-up was performed by a neuropaediatrician. Postnatal imaging included cranial US (n = 71) and MRI (n = 76). RESULTS: The outcome of minor and moderate IMV was excellent in 94% and 85% of infants, respectively. It was not different between uni- and bilateral IMV, and between stable, regressive and resolved IMV, and was independent of gestational age at diagnosis and gender. Fixed neurological abnormalities were observed in nine infants. Postnatal MRI showed white-matter abnormalities in 14 infants, including 6 of the 9 infants with a poor outcome. CONCLUSION: The prognosis was slightly better in minor IMV than in moderate IMV. Postnatal MRI showed white-matter abnormalities in two-thirds of the infants with a poor outcome.