HIDEA syndrome is caused by biallelic, pathogenic, rare or founder P4HTM variants impacting the active site or the overall stability of the P4H-TM protein.

HIDEA syndrome is caused by biallelic pathogenic variants in P4HTM. The phenotype is characterized by muscular and central hypotonia, hypoventilation including obstructive and central sleep apneas, intellectual disability, dysautonomia, epilepsy, eye abnormalities, and an increased tendency to develop respiratory distress during pneumonia. Here, we report six new patients with HIDEA syndrome caused by five different biallelic P4HTM variants, including three novel variants.

Antenatal and neonatal risk factors in very preterm children were associated with language difficulties at 9 years of age.

Aim: This Finnish study compared language and reading abilities between schoolchildren born at a very low gestational age (VLGA) of <32 weeks and at term and analysed any associations between antenatal and neonatal risk factors and language skills in the VLGA group.

Methods: We prospectively followed 76 children born at a VLGA and 50 children born at term when they reached a mean age of 9.0 (8.

Microstructural alterations in association tracts and language abilities in schoolchildren born very preterm and with poor fetal growth.

Background: Prematurity and perinatal risk factors may influence white matter microstructure. In turn, these maturational changes may influence language development in this high-risk population of children.

Objective: To evaluate differences in the microstructure of association tracts between preterm and term children and between preterm children with appropriate growth and those with fetal growth restriction and to study whether the diffusion tensor metrics of these tracts correlate with language abilities in schoolchildren with no severe neurological impairment.

Diffusion tensor imaging in frontostriatal tracts is associated with executive functioning in very preterm children at 9 years of age.

Background: Very preterm birth can disturb brain maturation and subject these high-risk children to neurocognitive difficulties later.

Objective: The aim of the study was to evaluate the impact of prematurity on microstructure of frontostriatal tracts in children with no severe neurologic impairment, and to study whether the diffusion tensor imaging metrics of frontostriatal tracts correlate to executive functioning.

Materials And Methods: The prospective cohort study comprised 54 very preterm children (mean gestational age 28.

Children born before 32 weeks of gestation displayed impaired reading fluency, comprehension and spelling skills at 9 years of age.

Aim: Our aim was to study whether prematurity, associated with prenatal and neonatal risk factors, affects specific literacy skills among school children born at a very low gestational age (VLGA) of <32 weeks.

Methods: The study group comprised 76 prospectively followed VLGA children born between November 1998 and November 2002 at Oulu University Hospital, Finland, and 51 term controls. The median gestational age of the VLGA children was 29.

Very preterm children with fetal growth restriction demonstrated altered white matter maturation at nine years of age.

Aim: This study evaluated the role of preterm birth and fetal growth restriction on white matter maturation in schoolchildren without any severe neurodevelopmental impairment.

Methods: The study group comprised 56 very preterm children and 21 term children born between November 1998 and November 2002 at Oulu University Hospital, Finland. The mean gestational age of the preterm children was 28.

Fetal hemodynamics and adverse outcome in primary school-aged children with fetal growth restriction: a prospective longitudinal study.

Introduction: Fetal growth restriction is associated with short-term and long-term mortality and morbidity. We hypothesized that adverse outcome in children with fetal growth restriction at primary school age is associated with fetoplacental circulatory abnormalities.

Material And Methods: Comprehensive ultrasonographic assessment of fetoplacental hemodynamics was performed in 72 growth-restricted fetuses prenatally, and short-term outcome data were collected.

Cerebral Palsy and Polymorphism of the Chemokine CCL18 in Very Preterm Children.

Background: Prematurity and hereditary factors predispose to cerebral palsy (CP). Previously, low cord blood levels of the anti-inflammatory chemokine CCL18 have been found to be associated with risk of CP in preterm children.

Objectives: To investigate the association between single nucleotide polymorphisms (SNPs) in CCL18 and susceptibility to CP, as well as the association between the SNPs and cord blood levels of CCL18.

Very preterm birth and foetal growth restriction are associated with specific cognitive deficits in children attending mainstream school.

Aim: This study investigated the association of prenatal and neonatal factors with cognitive outcomes in schoolchildren born very preterm without impairments at the age of nine.

Methods: We recruited a prospective regional cohort of 154 very low gestational age (VLGA) children of <32 weeks and 90 term-born comparison children born between November 1998 and November 2002 at Oulu University Hospital, Finland. Cognitive outcome was assessed using an inclusive neuropsychological test repertoire at the age of nine.

Perinatal immunoproteins predict the risk of cerebral palsy in preterm children.

Objective: To investigate whether blood cytokines during the perinatal period predict the risk of cerebral palsy (CP) in preterm infants.

Methods: This prospective cohort study comprised 169 children born before 32 weeks of gestation. Cord blood was drawn at birth, and 109 cytokines were analyzed using microarrays.

Chemokine CCL18 predicts intraventricular hemorrhage in very preterm infants.

Background: Intraventricular hemorrhage (IVH) in very preterm infants is a common disease associated with long-term consequences. Risk factors of IVH remain to be further defined.

Aims: To determine whether specific immunoproteins at birth predict the risk of IVH and whether their receptors are localized at the bleeding site.