Prevalence of cerebral palsy and factors associated with cerebral palsy subtype: A population-based study in Belgium.

Aim: To report on the prevalence, neuroimaging patterns, and function of children with cerebral palsy (CP) in Belgium for birth years 2007-2012, and identify distinctive risk indicators and differences in outcome between CP subtypes.

Methods: Antenatal and perinatal/neonatal factors, motor and speech function, associated impairments, and neuroimaging patterns were extracted from the Belgian Cerebral Palsy Register. Prevalence was estimated per 1000 (overall, ante/perinatal, spastic, dyskinetic CP) or 10,000 (post-neonatal, ataxic CP) live births.

p.Gly743Val Mutation in COL4A1 Is Responsible for Familial Porencephaly and Severe Hypermetropia.

COL4A1 is an essential component for basal membrane stability. Exon mutations of the COL4A1 genes are responsible for a broad spectrum of cerebral, ocular, and systemic manifestations. We describe here the phenotype of a likely pathogenic gene variant, p.

Corpus callosum thinning in autosomal dominant hereditary spastic paraplegia associated with a novel TUBβ4A mutation.

Siblings with hereditary spastic paraplegia and corpus callosum thinning associated with a novel TUBβ4A mutation.

Altered autonomic control in preterm newborns with impaired neurological outcomes.

Purpose: Very preterm newborns are at high risk of neurological injury. The objective of this work was to study the impact of neurological aggression on the autonomic nervous system.

Methods: We studied polysomnography recordings, at term corrected gestational age, for 38 preterm infants born at less than 28 weeks or weighing less than 1 kg.

A familial heterozygous null mutation of MET in autism spectrum disorder.

Autism spectrum disorder (ASD) results from interactions of genetic and environmental factors. The MET proto-oncogene has been identified as a candidate gene for autism susceptibility, and is implicated in neurodevelopment and social brain circuitry. Here, we describe the first case of a familial mutation of MET, consisting of an interstitial genomic deletion removing exons 12 through 15, causing a frameshift and premature stop codon, with evidence of nonsense-mediated mRNA decay.

Assessment of interferon-related biomarkers in Aicardi-Goutières syndrome associated with mutations in TREX1, RNASEH2A, RNASEH2B, RNASEH2C, SAMHD1, and ADAR: a case-control study.

Background: Aicardi-Goutières syndrome (AGS) is an inflammatory disorder caused by mutations in any of six genes (TREX1, RNASEH2A, RNASEH2B, RNASEH2C, SAMHD1, and ADAR). The disease is severe and effective treatments are urgently needed. We investigated the status of interferon-related biomarkers in patients with AGS with a view to future use in diagnosis and clinical trials.

[A technological platform for cerebral palsy - the ICT4Rehab project].

The musculoskeletal system (MSS) is essential to allow us performing every-day tasks, being able to have a professional life or developing social interactions with our entourage. MSS pathologies have a significant impact on our daily life. It is therefore not surprising to find MSS-related health problems at the top of global statistics on professional absenteeism or societal health costs.

Decreased spontaneous arousability in preterm newborns with impaired neurological outcome.

Preterm newborns are at high risk of neurological injury. In this population, we investigated the link between neurological complications and sleep architecture. At term-corrected gestational age, we studied retrospectively the polysomnography of 45 preterm infants born at < 28 weeks or weighting < 1 kg.

Mutations in CTC1, encoding conserved telomere maintenance component 1, cause Coats plus.

Coats plus is a highly pleiotropic disorder particularly affecting the eye, brain, bone and gastrointestinal tract. Here, we show that Coats plus results from mutations in CTC1, encoding conserved telomere maintenance component 1, a member of the mammalian homolog of the yeast heterotrimeric CST telomeric capping complex. Consistent with the observation of shortened telomeres in an Arabidopsis CTC1 mutant and the phenotypic overlap of Coats plus with the telomeric maintenance disorders comprising dyskeratosis congenita, we observed shortened telomeres in three individuals with Coats plus and an increase in spontaneous γH2AX-positive cells in cell lines derived from two affected individuals.