Birth Centre care : opening the black box

In the Netherlands, pregnant women with a low-risk of complications can choose where they would like to give birth; at home, in a hospital or in a birth centre, all accompanied by a community midwife. During the last years, more women are planning birth out of home because they do not feel safe at home or are asking for a referral to get pain relief. In the last 15 years, there was a rapid increase in the number of birth centres. Birth centres have been established because of various reasons, including a more homelike environment than in a hospital, competition with neighbouring hospitals, additional facilities during childbirth (like a bath and nitrous oxide) and to reduce the pressur

Expanding the phenotype of anauxetic dysplasia caused by biallelic NEPRO mutations:A case report

The cartilage hair hypoplasia and anauxetic dysplasia (CHH-AD) spectrum encompasses a group of rare skeletal disorders, with anauxetic dysplasia (ANXD) at the most severe end of the spectrum. Biallelic variants in RMRP, POP1, and NEPRO (C3orf17) have previously been associated with the three currently recognized ANXD types. Generally, all types are characterized by severe short stature, brachydactyly, skin laxity, joint hypermobility and dislocations, and extensive skeletal abnormalities visible on radiological evaluation. Thus far, only five patients with type 3 anauxetic dysplasia (ANXD3) have been reported. Here, we describe one additional ANXD3 patient. We provide a detailed physical and radiological evaluation of this patient, in whom we identified a homozygous variant, c.280C &gt; T, p.(Arg94Cys), in NEPRO. Our patient presented with clinically relevant features not previously described in ANXD3: atlantoaxial subluxation, extensive dental anomalies, and a sagittal suture craniosynostosis resulting in scaphocephaly. We provide an overview of the literature on ANXD3 and discuss our patient's characteristics in the context of previously described patients. This study expands the phenotypic spectrum of ANXD, particularly ANXD3. Greater awareness of the possibility of atlantoaxial subluxation, dental anomalies, and craniosynostosis may lead to more timely diagnosis and treatment.</p

A comparison of the early motor repertoire of very preterm infants and term infants

OBJECTIVE: To obtain reference data on the early motor repertoire of very preterm infants compared with healthy term infants at three months' post-term age. STUDY DESIGN: In this observational study, using Prechtl's method on the assessment of the early motor repertoire, we compared the quality of fidgety movements and the concurrent motor optimality score - revised of infants with a gestational age <30 weeks and/or a birth weight <1000 g with healthy infants with a gestational age of 37-42 weeks. RESULTS: One hundred eighty very preterm and 180 healthy term infants participated. The median motor optimality scores - revised of very preterm infants were significantly lower in comparison to those of term infants, with scores of 24 (25th-75th percentiles: 23-26) and 26 (25th-75th percentiles: 26-28), respectively. Fidgety movements were aberrant (abnormal or absent) more often in very preterm infants than in term infants. The odds ratio was 4.59 (95% CI, 1.51-13.92). Compared with term infants, very preterm infants had poorer scores on the subscales age-adequate movement repertoire, observed postural patterns, and movement character with odds ratios ≥2.97. We found no differences regarding observed movement patterns. CONCLUSION: This study provides reference data on the early motor repertoire of very preterm and healthy term infants. It demonstrates that the early motor repertoire of very preterm infants is poorer than that of term infants, a finding consistent with existing knowledge that prematurity increases the risk of poor neurodevelopment

Primrose syndrome: Characterization of the phenotype in 42 patients

Primrose syndrome (PS; MIM# 259050) is characterized by intellectual disability (ID), macrocephaly, unusual facial features (frontal bossing, deeply set eyes, down-slanting palpebral fissures), calcified external ears, sparse body hair and distal muscle wasting. The syndrome is caused by de novo heterozygous missense variants in ZBTB20. Most of the 29 published patients are adults as characteristics appear more recognizable with age. We present 13 hitherto unpublished individuals and summarize the clinical and molecular findings in all 42 patients. Several signs and symptoms of PS develop during childhood, but the cardinal features, such as calcification of the external ears, cystic bone lesions, muscle wasting, and contractures typically develop between 10 and 16 years of age. Biochemically, anemia and increased alpha-fetoprotein levels are often present. Two adult males with PS developed a testicular tumor. Although PS should be regarded as a progressive entity, there are no indications that cognition becomes more impaired with age. No obvious genotype-phenotype correlation is present. A subgroup of patients with ZBTB20 variants may be associated with mild, nonspecific ID. Metabolic investigations suggest a disturbed mitochondrial fatty acid oxidation. We suggest a regular surveillance in all adult males with PS until it is clear whether or not there is a truly elevated risk of testicular cancer.This article is freely available via Open Access. Click on the Publisher URL to access it via the publisher's site.published version, accepted version (12 month embargo) submitted versio

Samenvatting afstudeerwerk Public Territory

Onderzoek in de Dorsale regio in Wallonië, België. Ontwerp bestaat uit een station aan het eind van een verlaten metrolijn in Charleroi. Het ontwerp is een publiek gebouw met alle voorzieningen die zijn regio nodig heeft.Public BuildingArchitecture and ModernityArchitectur

Early motor development, early visual attention and functional outcome in children: insights into functional brain development

In this thesis, we investigated development of motor behavior and visual attention in the first six months of life, in relation to risk factors for an adverse development and in relation to functional outcome of the children later in life. We investigated variability in motor behavior by assessing the quality of general movements (GMs) and by calculating a detailed motor optimality score (MOS). We investigated visual attention by the ability to switch attention between two locations. Preterm infants at risk of bronchopulmonary dysplasia who were treated postnatally with high-dose dexamethasone experienced negative neurological effects as reflected in lower MOSs at three months postterm age and poorer school age performance at multiple domains than untreated infants. Treatment with low-dose dexamethasone, on the contrary, seemed promising since these infants had higher MOSs at three months and neurological outcome around 2 years of age was normal in the majority of infants. In a group of fullterm infants, those who had higher cord blood concentrations of several polychlorinated biphenyls (PCBs) more often had a reduced movement repertoire, indicating that even prenatal background exposure to toxic substances influences early motor development. In fullterm infants, detailed patterns of early motor development predicted specific cognitive and behavioral domains at school age. Infants who had a slower development of visual attention abilities at a young age had poorer attentional and motor skills later on. Our results suggest that particular markers in the first six months might help to identify those infants that might benefit from strategies aimed at improving their outcomes