Editorial: Psychology and Neuropsychology of Perception, Action, and Cognition

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Parental perspectives long term after neonatal clinical trial participation: a survey

Background: Although recruiting newborns is ethically challenging, clinical trials remain essential to improve neonatal care. There is a lack of empirical data on the parental perspectives following participation of their neonate in a clinical trial, especially at long term. The objective of this study is to assess experiences and emotions of parents, long term after trial participation in an interventional drug trial. Methods: Parents of former participants of five neonatal interventional drug trials were surveyed at long term (3– 13 years ago) after participation. The survey assessed parental contentment with trial participation, perceived influence of the trial on care and health, emotional consequences of participation, and awareness of typical clinical trial characteristics on 6-point Likert scales. Results: Complete responses were received from 123 parents (52% of involved families). Twenty percent of parents did not remember participation. Those who remembered participation reported high contentment with overall trial participation (median 5.00), but not with follow-up (median 3.00). Most parents did not perceive any influence of the trial on care (median 2.00) and health (median 2.43). Almost all parents reported satis

Critical coarctation of the aorta in selective fetal growth restriction and the role of coronary stent implantation

Introduction:Monochorionic twins are at increased risk of congenital heart defects (CHDs). Up to 26% have a birth weight <1,500 g, a CHD requiring neonatal surgery, therefore, poses particular challenges.Objective:The aim of the study was to describe pregnancy characteristics, perinatal management, and outcome of monochorionic twins diagnosed with critical coarctation of the aorta (CoA).Methods:We included monochorionic twins diagnosed with critical CoA (2010-2019) at 2 tertiary referral centers, and we systematically reviewed the literature regarding CoA in monochorionic twins.Results:Seven neonates were included. All were the smaller twin of pregnancies complicated by selective fetal growth restriction. The median gestational age at birth was 32 weeks (28-34). Birth weight of affected twins ranged as 670-1,800 g. One neonate underwent coarctectomy at the age of 1 month (2,330 g). Six underwent stent implantation, performed between day 8 and 40, followed by definitive coarctectomy between 4 and 9 months in 4. All 7 developed normally, except for 1 child with neurodevelopmental delay. Three co-twins had pulmonary stenosis, of whom 1 required balloon valvuloplasty. The literature review revealed 10 cases of CoA, all in the smaller twin. Six cases detected in the first weeks after birth were treated with prostaglandins alone, by repeated transcatheter angioplasty or by surgical repair, with good outcome in 2 out of 6.Conclusions:CoA specifically affects the smaller twin of growth discordant monochorionic twin pairs. Stent implantation is a feasible bridging therapy to surgery in these low birth weight neonates.Research into fetal development and medicin

FAHN/SPG35 : a narrow phenotypic spectrum across disease classifications

The endoplasmic reticulum enzyme fatty acid 2-hydroxylase (FA2H) plays a major role in the formation of 2-hydroxy glycosphingolipids, main components of myelin. FA2H deficiency in mice leads to severe central demyelination and axon loss. In humans it has been associated with phenotypes from the neurodegeneration with brain iron accumulation (fatty acid hydroxylase-associated neurodegeneration, FAHN), hereditary spastic paraplegia (HSP type SPG35) and leukodystrophy (leukodystrophy with spasticity and dystonia) spectrum. We performed an in-depth clinical and retrospective neurophysiological and imaging study in a cohort of 19 cases with biallelic FA2H mutations. FAHN/SPG35 manifests with early childhood onset predominantly lower limb spastic tetraparesis and truncal instability, dysarthria, dysphagia, cerebellar ataxia, and cognitive deficits, often accompanied by exotropia and movement disorders. The disease is rapidly progressive with loss of ambulation after a median of 7 years after disease onset and demonstrates little interindividual variability. The hair of FAHN/SPG35 patients shows a bristle-like appearance; scanning electron microscopy of patient hair shafts reveals deformities (longitudinal grooves) as well as plaque-like adhesions to the hair, likely caused by an abnormal sebum composition also described in a mouse model of FA2H deficiency. Characteristic imaging features of FAHN/SPG35 can be summarized by the WHAT' acronym: white matter changes, hypointensity of the globus pallidus, ponto-cerebellar atrophy, and thin corpus callosum. At least three of four imaging features are present in 85% of FA2H mutation carriers. Here, we report the first systematic, large cohort study in FAHN/SPG35 and determine the phenotypic spectrum, define the disease course and identify clinical and imaging biomarkers

Long-Term Neurodevelopmental Outcome of Monochorionic and Matched Dichorionic Twins

Contains fulltext : 79941.pdf (publisher's version ) (Open Access)BACKGROUND: Monochorionic (MC) twins are at increased risk for perinatal mortality and serious morbidity due to the presence of placental vascular anastomoses. Cerebral injury can be secondary to haemodynamic and hematological disorders during pregnancy (especially twin-to-twin transfusion syndrome (TTTS) or intrauterine co-twin death) or from postnatal injury associated with prematurity and low birth weight, common complications in twin pregnancies. We investigated neurodevelopmental outcome in MC and dichorionic (DC) twins at the age of two years. METHODS: This was a prospective cohort study. Cerebral palsy (CP) was studied in 182 MC infants and 189 DC infants matched for weight and age at delivery, gender, ethnicity of the mother and study center. After losses to follow-up, 282 of the 366 infants without CP were available to be tested with the Griffiths Mental Developmental Scales at 22 months corrected age, all born between January 2005 and January 2006 in nine perinatal centers in The Netherlands. Due to phenotypic (un)alikeness in mono-or dizygosity, the principal investigator was not blinded to chorionic status; perinatal outcome, with exception of co-twin death, was not known to the examiner. FINDINGS: Four out of 182 MC infants had CP (2.2%) - two of the four CP-cases were due to complications specific to MC twin pregnancies (TTTS and co-twin death) and the other two cases of CP were the result of cystic PVL after preterm birth - compared to one sibling of a DC twin (0.5%; OR 4.2, 95% CI 0.5-38.2) of unknown origin. Follow-up rate of neurodevelopmental outcome by Griffith's test was 76%. The majority of 2-year-old twins had normal developmental status. There were no significant differences between MC and DC twins. One MC infant (0.7%) had a developmental delay compared to 6 DC infants (4.2%; OR 0.2, 95% 0.0-1.4). Birth weight discordancy did not influence long-term outcome, though the smaller twin had slightly lower developmental scores than its larger co-twin. CONCLUSIONS: There were no significant differences in occurrence of cerebral palsy as well as neurodevelopmental outcome between MC and DC twins. Outcome of MC twins seems favourable in the absence of TTTS or co-twin death

Cerebral Visual Impairment and Clinical Assessment: The European Perspective

This paper summarizes the multidisciplinary pediatric assessment methods of 3 European centers for identifying and assessing cerebral visual impairment in childhood. It describes a comprehensive neurodevelopmental assessment evaluation in which visual aspects play an important part. Developmental trajectories and the heterogeneity of the clinical picture are emphasized. Multidisciplinary ophthalmology and neurodisability/neurology teamwork together with the parent and teachers, to reach an integrated and individualized perspective for the individual child, are described. This comprehensive assessment is the starting point for habilitation programs and interventions, that can support and meet the child's needs and help them reach their optimal potential. Future developments in classification of the cerebral visual impairment conditions, building on the child's individual assessment profile, will further enhance the direction of clinical, educational, and research progress.status: publishe

Assessment tool for visual perception deficits in cerebral visual impairment: development and normative data of typically developing children

Aim: To develop an assessment tool that measures a wide range of visual perceptual deficits common in cerebral visual impairment (CVI) and to provide normative data from typically developing children between 3 and 6 years of age. Method: Test development reflected cross‐talk between vision research and clinical relevance for CVI. The Children's Visual Impairment Test for 3‐ to 6‐year‐olds (CVIT 3–6) includes 14 subtests covering four domains of visual perception: Object Recognition, Degraded Object Recognition, Motion Perception, and Global–Local Processing. Normative data were collected from 301 typically developing children (mean age 4y 8mo [SD 9.7mo]; 148 females, 153 males). A questionnaire was administered to parents about pregnancy duration, birth, and developmental problems. Results: Average total CVIT 3–6 performance was 60.1 (SD 5.5) out of 70. The cut‐off score for normal visual perception (53) was set at the 10th centile of scores in typically developing children. Multiple regression indicated CVIT 3–6 visual perception scores increase with age for children born at 36 weeks’ gestational age or later (β=−18.03, 95% confidence interval −31.31 to −4.75). Interpretation: CVIT 3–6 is a tool to assess a wide range of visual perceptual deficits common in CVI. Age‐dependent normative data are available because we found performance increased with age. What the Paper Adds: - A test for visual perceptual deficits common in cerebral visual impairment. - Visual perceptual functions improve with age in full‐term typically developing children.</p

Assessment tool for visual perception deficits in cerebral visual impairment: Reliability and validity

Aim: To evaluate the reliability and validity of the Children's Visual Impairment Test for 3‐ to 6‐year‐olds (CVIT 3–6). Method: Reliability was assessed via test–retest correlation and intraclass correlation coefficient (ICC) in typically developing children, children with cerebral visual impairment (CVI), intellectual impairment, and simulated impaired vision (validation groups n=59, mean developmental age=4y 10mo, 27 females, 32 males). Internal validity was evaluated with a confirmatory factor analysis on the normative sample (n=301, median age=4y 8mo, SD=9.7mo, 148 females, 153 males). External validity was assessed by correlating performance on CVIT 3–6 with L94, the Beery‐Buktenica Developmental Test of Visuo‐Motor Integration (Beery‐VMI), the Freiburg Vision Test, the revised Snijders‐Oomen Nonverbal Intelligence Test for children between 2 years 6 months and 7‐years‐old (SON‐R 2.5–7), and the Social Responsiveness Scale (SRS) questionnaire and by comparing performance between validation groups. Results: We observed very good test–retest reliability (r=0.82, p&lt;0.001, ICC=0.80) and confirmed the hypothesized factor structure (comparative fit index=1; Tucker‐Lewis index=1.045). We found high correlations with tests with a strong visual perception component (L94: r=0.74, p&lt;0.001; SON‐R 2.5–7: r=0.37, p=0.01) and low correlations with other tests (Beery‐VMI: r=0.25, p=0.09; SRS: r=0–0.26, p=0.09). Lowest scores were observed for children with CVI compared to the other validation groups (F[3,44]=5.1, p=0.003). Interpretation: CVIT 3–6 is grounded in knowledge of visual perception. The tool specifically measures CVI‐related visual perception deficits and is not mediated by intellectual abilities or low visual acuity. What the Paper Adds: - Evidence for good test–retest reliability of the Children's Visual Impairment Test for 3‐ to 6‐year‐olds (CVIT 3–6). - Factor structure of normative data reflects CVIT 3–6's foundations in vision science. - CVIT 3–6 specifically measures visual perception impairments. - CVIT 3–6 performance is not influenced by intelligence or low visual acuity.</p