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The developmental course of the 22q13.3 deletion syndrome belongs to pervasive developmental disorders but is distinct from autism. An improved description of the natural history of this syndrome should help in recognizing this largely underdiagnosed condition.

OBJECTIVENeonatal diabetes secondary to mutations in potassium-channel subunits is a rare disease but constitutes a paradigm for personalized genetics-based medicine, as replacing the historical treatment with insulin injections with oral sulfonylurea (SU) therapy has been proven beneficial. SU receptors are widely expressed in the brain, and we therefore evaluated potential effects of SU on neurodevelopmental parameters, which are known to be unresponsive to insulin. RESEARCH DESIGN AND METHODSWe conducted a prospective single-center study. Nineteen patients (15 boys aged 0.1-18.5 years) were switched from insulin to SU therapy. MRI was performed at baseline. Before and 6 or 12 months after the switch, patients underwent quantitative neurological and developmental assessments and electrophysiological nerve and muscle testing. RESULTSAt baseline, hypotonia, deficiencies in gesture conception or realization, and attention disorders were common. SU improved HbA 1c levels (median change 21.55% [range 23.8 to 0.1]; P < 0.0001), intelligence scores, hypotonia (in 12 of 15 patients), visual attention deficits (in 10 of 13 patients), gross and fine motor skills (in all patients younger than 4 years old), and gesture conception and realization (in 5 of 8 older patients). Electrophysiological muscle and nerve tests were normal. Cerebral MRI at baseline showed lesions in 12 patients, suggesting that the impairments were central in origin. CONCLUSIONSSU therapy in neonatal diabetes secondary to mutations in potassium-channel subunits produces measurable improvements in neuropsychomotor impairments, which are greater in younger patients. An early genetic diagnosis should always be made, allowing for a rapid switch to SU.Neonatal diabetes is a rare condition that develops during the first months of life with an estimated incidence of 1 in 90,000 newborns (1,2). Neonatal diabetes can be permanent or transient, relapsing around puberty after a period of remission. We recently reported that 42% of patients in a large cohort had a heterozygous

This study covers the interesting field of the development in gifted children which is often neglected in pediatrics because psychomotor development data are still rare, since “gifted” children are generally noticed towards the end of their primary schooling by IQ measurement. Developmental studies have shown the evidence from several fields that children identified as “high-level potentialities” or “intellectually gifted” develop sensory, locomotor, neuropsychological, and language skills earlier than typically expected. The hypothesis is offered that the earlier development originates from biological processes affecting the physical development of the brain and in turn even intellectual abilities are developed earlier, potentially allowing for advanced development. Further it is discussed how these developmental advances interact with the social environment and in certain circumstances may entail increased risk for developing socioemotional difficulties and learning disabilities that often go unaddressed due to the masking by the advance intellectual abilities.

Background: Developmental Coordination Disorder (DCD) defines a heterogeneous class of children exhibiting marked impairment in motor coordination as a general group of deficits in fine and gross motricity (subtype mixed group) common to all research studies, and with a variety of other motor disorders that have been little investigated. No consensus about symptoms and etiology has been established.Methods: Data from 58 children aged 6 to 13 years with DCD were collected on DSM-IV criteria, similar to DSM-5 criteria. They had no other medical condition and inclusion criteria were strict (born full-term, no medication, no occupational/physical therapy). Multivariate statistical methods were used to evidence relevant interactions between discriminant features in a general DCD subtype group and to highlight specific co-morbidities. The study examined age-calibrated standardized scores from completed assessments of psychological, neuropsychological, and neuropsychomotor functions, and more specifically the presence of minor neurological dysfunctions (MND) including neurological soft signs (NSS), without evidence of focal neurological brain involvement. These were not considered in most previous studies.Results: Findings show the salient DCD markers for the mixed subtype (imitation of gestures, digital perception, digital praxia, manual dexterity, upper, and lower limb coordination), vs. surprising co-morbidities, with 33% of MND with mild spasticity from phasic stretch reflex (PSR), not associated with the above impairments but rather with sitting tone (p = 0.004) and dysdiadochokinesia (p = 0.011). PSR was not specific to a DCD subtype but was related to increased impairment of coordination between upper and lower limbs and manual dexterity. Our results highlight the major contribution of an extensive neuro-developmental assessment (mental and physical).Discussion: The present study provides important new evidence in favor of a complete physical neuropsychomotor assessment, including neuromuscular tone examination, using appropriate standardized neurodevelopmental tools (common tasks across ages with age-related normative data) in order to distinguish motor impairments gathered under the umbrella term of developmental coordination disorders (subcortical vs. cortical). Mild spasticity in the gastrocnemius muscles, such as phasic stretch reflex (PSR), suggests disturbances of the motor pathway, increasing impairment of gross and fine motricity. These findings contribute to understanding the nature of motor disorders in DCD by taking account of possible co-morbidities (corticospinal tract disturbances) to improve diagnosis and adapt treatment programmes in clinical practice.

The combination of STM and cutaneous application of oils to healthy preterm babies resulted in enhanced weight gain and neurological development, and a shorter stay in hospital.

BackgroundWith a large number of potentially relevant clinical indicators penalization and ensemble learning methods are thought to provide better predictive performance than usual linear predictors. However, little is known about how they perform in clinical studies where few cases are available. We used Random Forests and Partial Least Squares Discriminant Analysis to select the most salient impairments in Developmental Coordination Disorder (DCD) and assess patients similarity.MethodsWe considered a wide-range testing battery for various neuropsychological and visuo-motor impairments which aimed at characterizing subtypes of DCD in a sample of 63 children. Classifiers were optimized on a training sample, and they were used subsequently to rank the 49 items according to a permuted measure of variable importance. In addition, subtyping consistency was assessed with cluster analysis on the training sample. Clustering fitness and predictive accuracy were evaluated on the validation sample.ResultsBoth classifiers yielded a relevant subset of items impairments that altogether accounted for a sharp discrimination between three DCD subtypes: ideomotor, visual-spatial and constructional, and mixt dyspraxia. The main impairments that were found to characterize the three subtypes were: digital perception, imitations of gestures, digital praxia, lego blocks, visual spatial structuration, visual motor integration, coordination between upper and lower limbs. Classification accuracy was above 90% for all classifiers, and clustering fitness was found to be satisfactory.ConclusionsRandom Forests and Partial Least Squares Discriminant Analysis are useful tools to extract salient features from a large pool of correlated binary predictors, but also provide a way to assess individuals proximities in a reduced factor space. Less than 15 neuro-visual, neuro-psychomotor and neuro-psychological tests might be required to provide a sensitive and specific diagnostic of DCD on this particular sample, and isolated markers might be used to refine our understanding of DCD in future studies.