Psychomotor Development in the Offspring of Epileptic Mother

Objective. To evaluate the pre- and postnatal outcomes of euploid fetuses with aplasia/hypoplasia of the nasal bones (NB). Methods. We have made the catamnestic monitoring of children with a normal karyotype, who had been prenatally detected NB aplasia or hypoplasia (less than 5 perentile) at 11–24 weeks of gestation at ultrasound screening in the period between 2006–2015 years. Our study included a selection of 242 fetuses with NB aplasia or hypoplasia, in 128 (52.8 %) of them the NB was not visualized or appeared as an echogenic dot only. Results. Among all 63 fetuses with NB aplasia (absence or looks as an echogenic dot) in the 1st trimester in 24 (38 %) cases chromosomal abnormalities (CA) were found (including T21 — 15 (62.5 %) cases). Other 39 (61.9 %) fetuses had a normal karyotype. Among 65 fetuses with NB aplasia, examined in the 2nd trimester of gestation 12 (18.4 %) cases of CA were detected (one fetus with T21 had the only one ultrasound marker – isolated NB aplasia), 53 (81.5 %) fetuses had a normal karyotype. 62 mothers of the euploid fetuses with NB aplasia had been surveyed. We have received and analyzed 31 (50 %) responses. In 16 cases of euploid fetuses with NB, aplasia pregnancy outcome was adverse or relatively unfavorable, only 5 (31.2 %) fetuses of them had isolated NB aplasia. In other cases healthy full-term infants were born, who showed normal height and weight indexes, physical and psychomotor development observed in age from 0 to 10. Conclusion. In 51.6 % fetuses and children prenatally had aplasia of the nasal bone was marked by unfavorable pre- or postnatal outcome, according to the survey of their mothers.

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Neurodevelopmental Outcomes at 18 Months of Corrected Age for Late Preterm Infants Born at 34 and 35 Gestational Weeks

International Journal of Environmental Research and Public Health ◽

10.3390/ijerph18020640 ◽

2021 ◽

Vol 18 (2) ◽

pp. 640 ◽

Cited By ~ 1

Author(s):

Ruka Nakasone ◽

Kazumichi Fujioka ◽

Yuki Kyono ◽

Asumi Yoshida ◽

Takumi Kido ◽

...

Keyword(s):

Preterm Infants ◽

Late Preterm ◽

Psychomotor Development ◽

Youden Index ◽

Chromosomal Anomalies ◽

Clinical Factors ◽

Neurodevelopmental Outcomes ◽

Late Preterm Infants ◽

Significant Difference ◽

Severe Hyperbilirubinemia

To date, the difference in neurodevelopmental outcomes between late preterm infants (LPI) born at 34 and 35 gestational weeks (LPI-34 and LPI-35, respectively) has not been elucidated. This retrospective study aimed to evaluate neurodevelopmental outcomes at 18 months of corrected age for LPI-34 and LPI-35, and to elucidate factors predicting neurodevelopmental impairment (NDI). Records of all LPI-34 (n = 93) and LPI-35 (n = 121) admitted to our facility from 2013 to 2017 were reviewed. Patients with congenital or chromosomal anomalies, severe neonatal asphyxia, and without developmental quotient (DQ) data were excluded. Psychomotor development was assessed as a DQ using the Kyoto Scale of Psychological Development at 18 months of corrected age. NDI was defined as DQ < 80 or when severe neurodevelopmental problems made neurodevelopmental assessment impossible. We compared the clinical characteristics and DQ values between LPI-34 (n = 62) and LPI-35 (n = 73). To elucidate the factors predicting NDI at 18 months of corrected age, we compared clinical factors between the NDI (n = 17) and non-NDI (n = 118) groups. No significant difference was observed in DQ values at 18 months of corrected age between the groups in each area and overall. Among clinical factors, male sex, intraventricular hemorrhage (IVH), hyperbilirubinemia, and severe hyperbilirubinemia had a higher prevalence in the NDI group than in the non-NDI group, and IVH and/or severe hyperbilirubinemia showed the highest Youden Index values for predicting NDI. Based on the results of this study, we can conclude that no significant difference in neurodevelopmental outcomes at 18 months of corrected age was observed between LPI-34 and LPI-35. Patients with severe hyperbilirubinemia and/or IVH should be considered to be at high risk for developing NDI.

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Long-Term Outcome after Asphyxia and Therapeutic Hypothermia in Late Preterm Infants: A Pilot Study

Healthcare ◽

10.3390/healthcare9080994 ◽

2021 ◽

Vol 9 (8) ◽

pp. 994

Author(s):

Hanne Lademann ◽

Karl Abshagen ◽

Anna Janning ◽

Jan Däbritz ◽

Dirk Olbertz

Keyword(s):

Pilot Study ◽

Preterm Infants ◽

Perinatal Asphyxia ◽

Psychomotor Development ◽

Long Term Outcomes ◽

Term Outcome ◽

Long Term Outcome ◽

Developmental Index ◽

Mental Developmental Index

Therapeutic hypothermia (THT) is the recommended treatment for neuroprotection in (near) term newborns that experience perinatal asphyxia with hypoxic-ischemic encephalopathy. The benefit of THT in preterm newborns is unknown. This pilot study aims to investigate long-term outcomes of late preterm asphyctic infants with and without THT compared to term infants. The single-center, retrospective analysis examined medical charts of infants with perinatal asphyxia born between 2008 and 2015. Long-term outcome was assessed using the Bayley Scales of Infant Development 2 at the age of (corrected) 24 months. Term (n = 31) and preterm (n = 8) infants with THT showed no differences regarding their long-term outcomes of psychomotor development (Psychomotor Developmental Index 101 ± 16 vs. 105 ± 11, p = 0.570), whereas preterm infants had a better mental outcome (Mental Developmental Index 105 ± 13 vs. 93 ± 18, p = 0.048). Preterm infants with and without (n = 69) THT showed a similar mental and psychomotor development (Mental Developmental Index 105 ± 13 vs. 96 ± 20, p = 0.527; Psychomotor Developmental Index 105 ± 11 vs. 105 ± 15, p = 0.927). The study highlights the importance of studying THT in asphyctic preterm infants. However, this study shows limitations and should not be used as a basis for decision-making in the clinical context. Results of a multicenter trial of THT for preterm infants (ID No.: CN-01540535) have to be awaited.

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Physical, Perceptual, Socio-Relational, and Affective Skills of Five-Year-Old Children Born Preterm and Full-Term According to Their Body Mass Index

International Journal of Environmental Research and Public Health ◽

10.3390/ijerph18073769 ◽

2021 ◽

Vol 18 (7) ◽

pp. 3769

Author(s):

Pedro Gil-Madrona ◽

Sonia J. Romero-Martínez ◽

Carmen C. Roz-Faraco

Keyword(s):

Body Mass Index ◽

Body Mass ◽

Motor Coordination ◽

Body Schema ◽

Full Term ◽

Psychomotor Development ◽

Dynamic Coordination ◽

Ex Post ◽

Ex Post Facto ◽

Affective Skills

The main purpose of this study was to compare the psychomotor development of five-year-old children born preterm and full term. The comparison included physical-motor, perceptual-motor, and socio-relational and affective skills. As low weight is one of the variables that most influences the psychomotor development of premature infants, a secondary aim was to analyze these skills according to their current body mass index (BMI). A prospective simple ex-post facto study was conducted. The sample consisted of 672 five-year-old children enrolled in the third year of early childhood education in the province of Albacete, Spain; 35 of them was born prematurely. Children were evaluated by their teachers using the Checklist of Psychomotor Activities (CPA). The results show that children born preterm had a lower development of their physical-motor skills. In the perceptual-motor field, premature children showed lower scores in the variables related to their body image and body schema, motor dissociation, and visual-motor coordination, as well as in socio-relational and affective aspects. However, the development in laterality, dynamic coordination, motor execution, tonic-postural control, and balance were not affected. These differences were not affected by the current weight, given that the analysis of the BMI indicated no differences in preterm children. This study demonstrated the need to establish protocols oriented to the prevention of the difficulties detected in children with psychomotor high-risk and the needs to reinforce the educational programs in this area to improve the integral development of children born preterm.

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A novel de novo DDX3X missense variant in a female with brachycephaly and intellectual disability: a case report

Italian Journal of Pediatrics ◽

10.1186/s13052-021-01033-4 ◽

2021 ◽

Vol 47 (1) ◽

Author(s):

Giada Moresco ◽

Jole Costanza ◽

Carlo Santaniello ◽

Ornella Rondinone ◽

Federico Grilli ◽

...

Keyword(s):

Intellectual Disability ◽

Clinical Presentation ◽

De Novo ◽

Clinical Signs ◽

Missense Variant ◽

Psychomotor Development ◽

Helicase Domain ◽

Protein Activity ◽

Mrna Metabolism ◽

Pathogenic Variants

Abstract Background De novo pathogenic variants in the DDX3X gene are reported to account for 1–3% of unexplained intellectual disability (ID) in females, leading to the rare disease known as DDX3X syndrome (MRXSSB, OMIM #300958). Besides ID, these patients manifest a variable clinical presentation, which includes neurological and behavioral defects, and abnormal brain MRIs. Case presentation We report a 10-year-old girl affected by delayed psychomotor development, delayed myelination, and polymicrogyria (PMG). We identified a novel de novo missense mutation in the DDX3X gene (c.625C > G) by whole exome sequencing (WES). The DDX3X gene encodes a DEAD-box ATP-dependent RNA-helicase broadly implicated in gene expression through regulation of mRNA metabolism. The identified mutation is located just upstream the helicase domain and is suggested to impair the protein activity, thus resulting in the altered translation of DDX3X-dependent mRNAs. The proband, presenting with the typical PMG phenotype related to the syndrome, does not show other clinical signs frequently reported in presence of missense DDX3X mutations that are associated with a most severe clinical presentation. In addition, she has brachycephaly, never described in female DDX3X patients, and macroglossia, that has never been associated with the syndrome. Conclusions This case expands the knowledge of DDX3X pathogenic variants and the associated DDX3X syndrome phenotypic spectrum.

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Evolution of psychomotor development in pre-school children born prematurely

Anales de Pediatría (English Edition) ◽

10.1016/j.anpede.2019.10.010 ◽

2020 ◽

Vol 93 (4) ◽

pp. 228-235

Author(s):

Alejandra Victoria Pereira-Cerro ◽

María Dolores Lanzarote-Fernández ◽

María Merced Barbancho-Morant ◽

Eva María Padilla-Muñoz

Keyword(s):

School Children ◽

Psychomotor Development

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The natural history of Canavan disease: 23 new cases and comparison with patients from literature

Orphanet Journal of Rare Diseases ◽

10.1186/s13023-020-01659-3 ◽

2021 ◽

Vol 16 (1) ◽

Author(s):

Annette Bley ◽

Jonas Denecke ◽

Alfried Kohlschütter ◽

Gerhard Schön ◽

Sandra Hischke ◽

...

Keyword(s):

Severity Score ◽

Canavan Disease ◽

Psychomotor Development ◽

Rank Test ◽

First Year ◽

Study Cohort ◽

Pooled Data ◽

Kaplan Meier ◽

History Of ◽

First Year Of Life

Abstract Background Canavan disease (CD, MIM # 271900) is a rare and devastating leukodystrophy of early childhood. To identify clinical features that could serve as endpoints for treatment trials, the clinical course of CD was studied retrospectively and prospectively in 23 CD patients. Results were compared with data of CD patients reported in three prior large series. Kaplan Meier survival analysis including log rank test was performed for pooled data of 82 CD patients (study cohort and literature patients). Results Onset of symptoms was between 0 and 6 months. Psychomotor development of patients was limited to abilities that are usually gained within the first year of life. Macrocephaly became apparent between 4 and 18 months of age. Seizure frequency was highest towards the end of the first decade. Ethnic background was more diverse than in studies previously reported. A CD severity score with assessment of 11 symptoms and abilities was developed. Conclusions Early hallmarks of CD are severe psychomotor disability and macrocephaly that develop within the first 18 months of life. While rare in the first year of life, seizures increase in frequency over time in most patients. CD occurs more frequently outside Ashkenazi Jewish communities than previously reported. Concordance of phenotypes between siblings but not patients with identical ASPA mutations suggest the influence of yet unknown modifiers. A CD severity score may allow for assessment of CD disease severity both retrospectively and prospectively.

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Evaluation of Child–Computer Interaction Using Fitts’ Law: A Comparison between a Standard Computer Mouse and a Head Mouse

Sensors ◽

10.3390/s21113826 ◽

2021 ◽

Vol 21 (11) ◽

pp. 3826

Author(s):

Cristina Sanchez ◽

Vanina Costa ◽

Rodrigo Garcia-Carmona ◽

Eloy Urendes ◽

Javier Tejedor ◽

...

Keyword(s):

Motor Control ◽

Inertial Sensor ◽

Psychomotor Development ◽

Fine Motor ◽

Input Devices ◽

Fitts Law ◽

Computer Mouse ◽

Adults And Children ◽

Study Participants ◽

Computer Interaction

This study evaluates and compares the suitability for child–computer interaction (CCI, the branch within human–computer interaction focused on interactive computer systems for children) of two devices: a standard computer mouse and the ENLAZA interface, a head mouse that measures the user’s head posture using an inertial sensor. A multidirectional pointing task was used to assess the motor performance and the users’ ability to learn such a task. The evaluation was based on the interpretation of the metrics derived from Fitts’ law. Ten children aged between 6 and 8 participated in this study. Participants performed a series of pre- and post-training tests for both input devices. After the experiments, data were analyzed and statistically compared. The results show that Fitts’ law can be used to detect changes in the learning process and assess the level of psychomotor development (by comparing the performance of adults and children). In addition, meaningful differences between the fine motor control (hand) and the gross motor control (head) were found by comparing the results of the interaction using the two devices. These findings suggest that Fitts’ law metrics offer a reliable and objective way of measuring the progress of physical training or therapy.

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