Mary Chesshyre, Deborah Ridout, Georgia Stimpson, Valeria Ricotti, Silvana De Lucia, Erik H Niks, Volker Straub, Laurent Servais, Jean-Yves Hogrel, Giovanni Baranello, Adnan Manzur, UK NorthStar Clinical Network and Francesco Muntoni* on behalf of the iMDEX network.
Males with Duchenne muscular dystrophy aged 5 years to 18 years were subdivided according to the predicted effects of the participants' DMD mutation on dystrophin isoform expression (group 1, Dp427 absent, Dp140/Dp71 present; group 2, Dp427/Dp140 absent, Dp71 present).
Predicted reduced Dp140 expression was associated with reduced grip and pinch strength.
Predicted reduced Dp140 expression was associated with reduced forced vital capacity percent predicted.
Left: Distribution of NIH funding, as percentages, for different categories within the CP portfolio. Right: NIH allocation, in dollars, for stroke, autism spectrum disorders, Parkinson#x00027;s disease, multiple sclerosis, and cerebral palsy.
Children and adolescents with SGCE-associated myoclonus dystonia showed a progression of motor symptoms during a mean follow-up of 4 years. Patients developed a significant increase in the severity of axial and limb myoclonus, as well as dystonia during writing. Consequently, patients reported a marked decline in their speech, writing, and walking abilities. Up to 74% of patients had a psychiatric diagnosis, most commonly anxiety, obsessive-compulsive disorder, and attention-deficit/hyperactivity disorder.
We looked at the physical activity levels of 497 preschool children who were either typically developing, at risk of developmental coordination disorder (DCDr), or with probable DCD (pDCD). We assessed physical activity using accelerometry and machine learning. We found that daily time spent in sedentary, light, and moderate-to-vigorous physical activity did not differ between the typically developing, DCDr, and pDCD groups, however the pDCD and DCDr groups accumulated less time in ambulatory activities (walking/running) than typically developing children.
Detailed neurobehavioral phenotyping using the neurobehavioral evaluation tool (NET) caregiver-report survey scales was conducted across seven study groups.
This original article is commented by Dieu and Briganti on pages559–560 of this issue.
Immigrant children born very preterm face systemic inequalities such as language barriers. Language barriers can be operationalized as a continuous linguistic distance score. Linguistic distance is associated with mental health of children born very preterm. Associations between linguistic distance and preschool children's mental health (SDQ total score) for selected language groups in the German Neonatal Network study sample are presented.
This original article is commented by Müller et al. on pages557–558 of this issue.
In this cohort of 18 children with acquired motor speech disorders in the context of epilepsy, patients typically presented with a mixed profile of speech features causing significant impact on functioning. The initial motor speech regression was often temporally associated with either epilepsy onset or peak seizure burden. Electrographic abnormalities were observed in brain regions involved in speech production. Difficulties typically persisted with some improvement over time, especially in children with Landau–Kleffner syndrome and/or those whose interictal EEG improved.
This original article is commented by Van Bogaert on pages 283–284 of this issue.
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