Developmental and Behavioral Pediatrics

A special issue of Children (ISSN 2227-9067).

Deadline for manuscript submissions: closed (5 August 2022) | Viewed by 45156

Special Issue Editor


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Guest Editor
Developmental and Behavioral Pediatrics, First Department of Pediatrics, National and Kapodistrian University of Athens, School of Medicine, “Aghia Sophia” Children’s Hospital, 11527 Athens, Greece
Interests: neurodevelopment; children; autism spectrum disorder; ADHD; early life stress; parenting; childhood obesity
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Special Issue Information

Dear Colleagues,

The field of Developmental and Behavioral Pediatrics constitutes a relatively new pediatric subspecialty and focuses on the understanding of functional changes in all domains of child and adolescent development, including language, movement, cognitive function, and social–emotional development. The field also focuses on the assessment of children with, or at risk of, neurodevelopmental and behavioral difficulties. As a group, developmental and behavioral problems and disorders affect one in six children, comprising one of the most prevalent pediatric conditions. Prematurity, fetal growth restriction, and prenatal influences, as well as genetic conditions, are directly related to neurodevelopmental outcomes. In addition, psychosocial aspects of health, adversity, and parenting contribute to and affect child development. Sleep, feeding, and sensory issues are also important factors that influence child behavior.

This Special Issue aims to highlight the importance of monitoring and supporting child development, especially during the critical periods of life, to raise awareness of the identification of high-risk conditions in developmental and behavioral pediatrics, as well as to enhance the understanding of neuropsychobiological aspects of children with neurodevelopmental disorders. The content of this Special Issue covers pediatric developmental topics, including ADHD, Autism, Intellectual Disability, Depression, Behavioral Aspects of Chronic Illness, Psychosocial Determinants of Child Health, Stress and Adversity, Neurodevelopmental Disorders, Parenting and Family Factors, Developmental Screening and Assessment, and Early intervention. All types of manuscripts, such as research papers and reviews, are welcome.

Prof. Panagiota Pervanidou
Guest Editor

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Keywords

  • child development
  • child behavior
  • ADHD
  • ASD
  • intellectual disability
  • stress
  • neurodevelopmental disorders

Published Papers (15 papers)

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Research

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18 pages, 586 KiB  
Article
The Effect of Financial Scarcity on Reinforcer Pathology: A Dyadic Developmental Examination
by Amanda K. Crandall, Leonard H. Epstein, Jennifer Fillo, Kevin Carfley, Eleanor Fumerelle and Jennifer L. Temple
Children 2022, 9(9), 1338; https://doi.org/10.3390/children9091338 - 1 Sep 2022
Cited by 1 | Viewed by 1312
Abstract
This study investigated the effects of experimentally manipulated scarcity on the reinforcing value of food (RRVfood) and delay discounting (DD), which, together, create reinforcer pathology (RP) among parents and offspring. A stratified sample of 106 families (53 parent/child aged 7–10 dyads [...] Read more.
This study investigated the effects of experimentally manipulated scarcity on the reinforcing value of food (RRVfood) and delay discounting (DD), which, together, create reinforcer pathology (RP) among parents and offspring. A stratified sample of 106 families (53 parent/child aged 7–10 dyads & 53 parent/adolescent aged 15–17 dyads) from high- and low-income households visited our laboratory for three appointments. Each appointment included an experimental manipulation of financial gains and losses and DD and RRV tasks. The results showed that, regardless of food insecurity or condition, children had greater RP (β = 1.63, p < 0.001) than adolescents and parents. DD was largely unaffected by acute scarcity in any group, but families with food insecurity had greater DD (β = −0.09, p = 0.002) than food-secure families. Food-insecure parents with children responded to financial losses with an increase in their RRVfood (β = −0.03, p = 0.011), while food-secure parents and food-insecure parents of adolescents did not significantly change their responding based on conditions. This study replicates findings that financial losses increase the RRVfood among adults with food insecurity and extends this literature by suggesting that this is strongest for parents of children. Full article
(This article belongs to the Special Issue Developmental and Behavioral Pediatrics)
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11 pages, 3540 KiB  
Article
The Current Status of Public Playground Safety and Children’s Risk Taking Behavior in the Park: Nakhon Si Thammarat Province, Thailand
by Preeda Sansakorn, Uraiwan Madardam, Jutaluck Pongsricharoen, Narumon Srithep, Nisarat Janjamsri and Jittaporn Mongkonkansai
Children 2022, 9(7), 1034; https://doi.org/10.3390/children9071034 - 12 Jul 2022
Cited by 4 | Viewed by 2564
Abstract
The playground is perhaps the one area where school children feel like they can roam free, and public playgrounds provide many learning opportunities through different types of play. A cross-sectional descriptive study is presented with the objective of studying playground safety and the [...] Read more.
The playground is perhaps the one area where school children feel like they can roam free, and public playgrounds provide many learning opportunities through different types of play. A cross-sectional descriptive study is presented with the objective of studying playground safety and the play behavior of primary school children at a park in Nakhon Si Thammarat Province, Thailand. The total number of playground equipment pieces was 22, the sample group of children was 362 children, and the data were collected using a playground safety survey and an observation form on playground play behavior. Data were collected from 2017 to 2018 and were analyzed using descriptive statistics including frequency, average, and standard deviation. The research showed that: (1) the most common defects of playground equipment included the material selection, the distance of the stair steps, and the height of the playground equipment; (2) the lack of awareness of children in terms of using the playground equipment safely; and (3) the three top risks in the play behavior of children were not checking equipment or toys before play, playing on the equipment over-adventurously, and playing on the equipment carelessly with friends. Related government agencies should provide support and management for playground areas and playground equipment by continuously implementing equipment checks, improvements, and repairs. Full article
(This article belongs to the Special Issue Developmental and Behavioral Pediatrics)
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8 pages, 241 KiB  
Article
Alberta Infant Motor Scale (AIMS) Performance of Early-Term Greek Infants: The Impact of Shorter Gestation on Gross Motor Development among “Term-Born” Infants
by Dimitris Syrengelas, Eirini Nikaina, Paraskevi Kleisiouni and Tania Siahanidou
Children 2022, 9(2), 270; https://doi.org/10.3390/children9020270 - 16 Feb 2022
Cited by 3 | Viewed by 2980
Abstract
Early-term birth (37+0 to 38+6 gestational weeks) may have a negative impact on infants’ neurodevelopment compared to delivery at 39 weeks or beyond. The purpose of this study was to evaluate the gross motor development of early-term infants using the Alberta [...] Read more.
Early-term birth (37+0 to 38+6 gestational weeks) may have a negative impact on infants’ neurodevelopment compared to delivery at 39 weeks or beyond. The purpose of this study was to evaluate the gross motor development of early-term infants using the Alberta Infant Motor Scale (AIMS). A total of 1087 healthy infants (559 early-term and 528 full-term infants born at 39+0 to 41+6 weeks of gestation) were studied. Mean AIMS scores were compared between the two groups at monthly intervals. The impact of gestational age on total AIMS scores was assessed by linear regression, after adjustment for chronological age, sex and SGA. Mean total AIMS scores, albeit within normal range, were significantly lower in early-term than full-term infants at the 2nd, 6th, 7th, 8th and 12th month of age; differences between groups were within three points. In multivariate regression analysis, a longer gestation by one week had a positive impact on total AIMS score during the first year of life (β = 0.90; 95% CI 0.45, 1.35). In conclusion, early-term infants exhibit worse gross motor performance during the first year of life in comparison with their full-term peers; however, the differences between the two groups are small. Full article
(This article belongs to the Special Issue Developmental and Behavioral Pediatrics)
17 pages, 328 KiB  
Article
Psychometric Properties of Scared-C Scale in a Romanian Community Sample and Its Future Utility for Dental Practice
by Sorana-Maria Bucur, Adela Moraru, Beata Adamovits, Eugen Silviu Bud, Cristian Doru Olteanu and Luminița Ligia Vaida
Children 2022, 9(1), 34; https://doi.org/10.3390/children9010034 - 1 Jan 2022
Cited by 2 | Viewed by 1649
Abstract
The psychological management of children and adolescents in need of pedodontics or orthodontic treatments continues to be an essential objective in dental activity because along with the accuracy of the techniques that are used, anxiety reduction, and knowledge of how to approach the [...] Read more.
The psychological management of children and adolescents in need of pedodontics or orthodontic treatments continues to be an essential objective in dental activity because along with the accuracy of the techniques that are used, anxiety reduction, and knowledge of how to approach the patient are necessary for the treatment to be successful. Therefore, our study aimed to validate the Screen for Child Anxiety Related Emotional Disorders questionnaire, the child version of 41 items (SCARED-C) in the Romanian population for later use in pediatric dentistry. The instrument showed moderate to good internal consistency (α Cronbach from 0.63 to 0.91 for the total scale) and good test–retest reliability (0.70) on a subset of a sample comprising 85 children. A confirmatory factorial analysis (CFA) was conducted to test the factor structure of the Romanian version of the SCARED-C; the results showed that SCARED-C has good psychometric properties that can be used for screening anxiety in Romanian children and adolescents. The implications of using the SCARED-C in dental practice are discussed. Future studies need to be conducted to explore the convergent and discriminative validity of the instrument and its sensitivity to current DSM-V criteria. Application on a pediatric dental sample is also required. Full article
(This article belongs to the Special Issue Developmental and Behavioral Pediatrics)
15 pages, 780 KiB  
Article
Daily Behaviors, Worries and Emotions in Children and Adolescents with ADHD and Learning Difficulties during the COVID-19 Pandemic
by Terpsichori Korpa, Theodora Pappa, Giorgos Chouliaras, Anastasia Sfinari, Anna Eleftheriades, Matthaios Katsounas, Christina Kanaka-Gantenbein and Panagiota Pervanidou
Children 2021, 8(11), 995; https://doi.org/10.3390/children8110995 - 2 Nov 2021
Cited by 10 | Viewed by 4733
Abstract
The aim of the present study was to investigate the effects of the coronavirus crisis on behavioral and emotional parameters in children and adolescents with ADHD and Learning Difficulties. A total of 101 children, 5–18 years old, were included in the study, 63 [...] Read more.
The aim of the present study was to investigate the effects of the coronavirus crisis on behavioral and emotional parameters in children and adolescents with ADHD and Learning Difficulties. A total of 101 children, 5–18 years old, were included in the study, 63 (44 boys) of which were diagnosed with ADHD and learning difficulties (ADHD/LD) and 38 were healthy children (19 boys). The CRISIS questionnaire for parents/caregivers was used. The questionnaire was completed during the first national lockdown in Greece and the data referred to two time-points: 3 months before, and the past 2 weeks. A significant deterioration in the “Emotion/Worries (EW)” symptoms was observed during the pandemic in the control group (2.62 ± 0.16 vs. 2.83 ± 0.18, p < 0.001). No such differences were noted in the ADHD group: 3.08 ± 0.25 vs. 3.12 ± 0.29, p = 0.12. Provision of educational and activities support was related to increased EW before the crisis. In ADHD/LD children, higher parental education and child’s younger age were related to increased symptoms of EW. In the entire group, previous mental health conditions, increasing stress due to restrictions, and increased COVID-related worries were positively associated with the EW symptoms during the crisis. Less affected relations with friends and less reduction in contact with people outside the home were negatively related with EW during the crisis. The study revealed specific parameters that negatively affected the emotional and behavioral variables of children with ADHD and learning difficulties. Full article
(This article belongs to the Special Issue Developmental and Behavioral Pediatrics)
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14 pages, 724 KiB  
Article
Increased Serum Concentrations of High Mobility Group Box 1 (HMGB1) Protein in Children with Autism Spectrum Disorder
by Gerasimos Makris, Giorgos Chouliaras, Filia Apostolakou, Charalabos Papageorgiou, George P. Chrousos, Ioannis Papassotiriou and Panagiota Pervanidou
Children 2021, 8(6), 478; https://doi.org/10.3390/children8060478 - 5 Jun 2021
Cited by 8 | Viewed by 3044
Abstract
High mobility group box 1 protein (HMGB1) has been suggested to be involved in the immune dysfunction and inflammation reported in autism spectrum disorder (ASD). We aimed to assess HMGB1 serum concentrations (SCs) in high-functioning ASD children compared to typically developing (TD) controls [...] Read more.
High mobility group box 1 protein (HMGB1) has been suggested to be involved in the immune dysfunction and inflammation reported in autism spectrum disorder (ASD). We aimed to assess HMGB1 serum concentrations (SCs) in high-functioning ASD children compared to typically developing (TD) controls and to explore their associations with the autism spectrum quotient (AQ), the empathy quotient (EQ), and the systemizing quotient (SQ). The study involved 42 ASD children and 38 TD children, all-male, aged between 6.1 and 13.3 years old. HMGB1 SCs were measured by enzyme-linked immunosorbent assay (ELISA). Groups were comparable regarding age, general IQ, birth weight, and maternal age at birth. ASD children showed significantly higher HMGB1 SCs compared to TD children (1.25 ± 0.84 ng/mL versus 1.13 ± 0.79 ng/mL, respectively, p = 0.039). The Spearman’s rho revealed that HMGB1 SCs were positively correlated with the AQ attention to detail subscale (rs = 0.46, p = 0.045) and with the SQ total score (rs = 0.42, p = 0.04) in the ASD group. These results show that HMGB1 serum concentrations are altered in ASD children, and suggest that inflammatory processes mediated by HMGB1 may be associated with specific cognitive features observed in ASD. Full article
(This article belongs to the Special Issue Developmental and Behavioral Pediatrics)
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Review

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17 pages, 558 KiB  
Review
Neurodevelopmental Outcomes of Pregnancies Resulting from Assisted Reproduction: A Review of the Literature
by Paraskevas Perros, Alexandros Psarris, Panagiotis Antsaklis, Marianna Theodora, Michael Syndos, Antonios Koutras, Thomas Ntounis, Zaharias Fasoulakis, Alexandros Rodolakis and Georgios Daskalakis
Children 2022, 9(10), 1511; https://doi.org/10.3390/children9101511 - 3 Oct 2022
Cited by 3 | Viewed by 1782
Abstract
The term infertility is defined as the lack of conception within 1 year of unprotected intercourse. It affects more than 80 million individuals worldwide. It is estimated that 10-15% of couples of reproductive age are challenged by reproductive issues. Assisted reproduction techniques (ART) [...] Read more.
The term infertility is defined as the lack of conception within 1 year of unprotected intercourse. It affects more than 80 million individuals worldwide. It is estimated that 10-15% of couples of reproductive age are challenged by reproductive issues. Assisted reproduction techniques (ART) are responsible for more than 4% of live births. Our aim is to review the research on neurodevelopmental outcomes of newborns born after the implementation of assisted reproduction methods compared to those conceived naturally. We conducted a comprehensive search of the PubMed, Crossref and Google Scholar electronic databases for related articles up to June 2022 using the PRISMA guidelines. Our research revealed a large number of long term follow-up studies between 2 and 18 years of age, with comparable developmental outcomes. Many studies compared the effects of different infertility treatments against natural conception. The review of the literature revealed that ART is safe, as the majority of studies showed no effect on the neurodevelopmental outcomes of the offspring. In most cases when such an effect was observed, it could be attributed to confounding factors such as subfertility, multiple pregnancies and gestational age at delivery. Finally, the increase in the prevalence of neurodevelopmental disorders after ART, as described in studies with statistically significant results, is predominantly marginal, and given the low incidence of neurodevelopmental disorders in the general population, its clinical significance is debatable. Full article
(This article belongs to the Special Issue Developmental and Behavioral Pediatrics)
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19 pages, 677 KiB  
Review
Dextro-Transposition of Great Arteries and Neurodevelopmental Outcomes: A Review of the Literature
by Kalliopi Kordopati-Zilou, Theodoros Sergentanis, Panagiota Pervanidou, Danai Sofianou-Petraki, Konstantinos Panoulis, Nikolaos Vlahos and Makarios Eleftheriades
Children 2022, 9(4), 502; https://doi.org/10.3390/children9040502 - 2 Apr 2022
Cited by 2 | Viewed by 3324
Abstract
Background: Arterial switch operation (ASO) is the gold-standard surgical approach for dextro-transposition of the great arteries (D-TGA). It is performed during the neonatal period and has almost diminished the previously high mortality rate (from 90% if left untreated to <0.5%). Despite the impressively [...] Read more.
Background: Arterial switch operation (ASO) is the gold-standard surgical approach for dextro-transposition of the great arteries (D-TGA). It is performed during the neonatal period and has almost diminished the previously high mortality rate (from 90% if left untreated to <0.5%). Despite the impressively high survival rates, the surgical procedure itself—along with the chronic post-operative complications and the perinatal impaired cerebral oxygen delivery—introduces multiple and cumulative risk factors for neurodevelopmental impairment. Method: This study is a review of English articles, using PUBMED and applying the following search terms, “transposition of the great arteries”, “neurodevelopment”, “autism”, “cerebral palsy”, and “attention-deficit hyperactivity disorder”. Data were extracted by two authors. Results: Even though general IQ is mainly found within the normal range, D-TGA children and adolescents display reduced performance in the assignments of executive functions, fine motor functions, attention, working memory, visual–spatial skills, and higher-order language skills. Moreover, D-TGA survivors may eventually struggle with inferior academic achievements and psychiatric disorders such as depression, anxiety, and ADHD. Conclusions: The existing literature concerning the neurodevelopment of D-TGA patients suggests impairment occurring during their lifespan. These findings underline the importance of close developmental surveillance so that D-TGA patients can better reach their full potential. Full article
(This article belongs to the Special Issue Developmental and Behavioral Pediatrics)
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11 pages, 272 KiB  
Review
Medical and Behavioral Aspects of Adolescent Endometriosis: A Review of the Literature
by Maria-Konstantina Liakopoulou, Ermioni Tsarna, Anna Eleftheriades, Angeliki Arapaki, Konstantina Toutoudaki and Panagiotis Christopoulos
Children 2022, 9(3), 384; https://doi.org/10.3390/children9030384 - 9 Mar 2022
Cited by 7 | Viewed by 4105
Abstract
The majority of young women will experience discomfort associated with menstrual cycles and miss out on education and social opportunities. Endometriosis, the presence of endometrial glands and stroma outside of uterus, is the most common cause of secondary dysmenorrhea and characterized by pain [...] Read more.
The majority of young women will experience discomfort associated with menstrual cycles and miss out on education and social opportunities. Endometriosis, the presence of endometrial glands and stroma outside of uterus, is the most common cause of secondary dysmenorrhea and characterized by pain despite treatment with nonsteroidal anti-inflammatory drugs and hormonal agents. The true prevalence of adolescent endometriosis is not clear. Delay in diagnosis leads to persistent pain, affects quality of life, and potentially contributes to disease progression and subfertility. A laparoscopic diagnosis is the gold standard, but the surgical appearance may differ from adults, as endometriotic lesions are usually red or clear, making their identification a challenge for gynecologists who are unexperienced with endometriosis in adolescents. A personalized medical–surgical treatment is regarded as the most effective therapeutic strategy to achieve remission of symptoms, suppress disease progression, and protect future fertility. Studies have demonstrated how adolescent endometriosis negatively affects patients’ quality of life and psychosocial functioning. Development of therapeutic interventions targeting psychosocial function and quality of life is imperative for adolescent patients. Full article
(This article belongs to the Special Issue Developmental and Behavioral Pediatrics)

Other

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7 pages, 1034 KiB  
Case Report
Prenatal Identification of a Novel Mutation in the MCPH1 Gene Associated with Autosomal Recessive Primary Microcephaly (MCPH) Using Next Generation Sequencing (NGS): A Case Report and Review of the Literature
by Ioannis Papoulidis, Makarios Eleftheriades, Emmanouil Manolakos, Michael B. Petersen, Simoni Marina Liappi, Anastasia Konstantinidou, Maria Papamichail, Vassilios Papadopoulos, Antonios Garas, Sotirios Sotiriou, Ioannis Papastefanou, Georgios Daskalakis and Aleksandar Ristic
Children 2022, 9(12), 1879; https://doi.org/10.3390/children9121879 - 30 Nov 2022
Cited by 2 | Viewed by 1106
Abstract
Background: MCPH1 is known as the microcephalin gene (OMIM: *607117), of which the encoding protein is a basic regulator of chromosome condensation (BCRT-BRCA1 C-terminus). The microcephalin protein is made up of three BCRT domains and conserved tandem repeats of interacting phospho-peptides. There is [...] Read more.
Background: MCPH1 is known as the microcephalin gene (OMIM: *607117), of which the encoding protein is a basic regulator of chromosome condensation (BCRT-BRCA1 C-terminus). The microcephalin protein is made up of three BCRT domains and conserved tandem repeats of interacting phospho-peptides. There is a strong connection between mutations of the MCPH1 gene and reduced brain growth. Specifically, individuals with such mutations have underdeveloped brains, varying levels of mental retardation, delayed speech and poor language skills. Methods: In this article, a family with two affected fetuses presenting a mutation of the MCPH1 gene is reported. During the first trimester ultrasound of the second pregnancy, the measure of nuchal translucency was increased (NT = 3.1 mm) and, therefore, the risk for chromosomal abnormalities was high. Chorionic villi sampling (CVS) was then performed. Afterwards, fetal karyotyping and Next Generation Sequencing were carried out. Afterwards, NGS was also performed in a preserved sample of the first fetus which was terminated due to microcephaly. Results: In this case, the fetuses had a novel homozygous mutation of the MCPH1 gene (c.348del). Their parents were heterozygous for the mutation. The fetuses showed severe microcephaly. Because of the splice sites in introns, this mutation causes the forming of dysfunctional proteins which lack crucial domains of the C-terminus. Conclusion: Our findings portray an association between the new MCPH1 mutation (c.348del) and the clinical features of autosomal recessive primary microcephaly (MCPH), contributing to a broader spectrum related to these pathologies. To our knowledge, this is the first prenatal diagnosis of MCPH due to a novel MCPH1 mutation. Full article
(This article belongs to the Special Issue Developmental and Behavioral Pediatrics)
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11 pages, 1616 KiB  
Case Report
Conjoined Twins Complicating a Dichorionic Triplet Pregnancy after Intracytoplasmic Sperm Injection: A Case Report and Review of the Literature
by Anna Eleftheriades, Panagiotis Christopoulos, Elsa Tsapakis, Ermioni Tsarna, Nikolaos F. Vlahos, Emmanouil Kalampokas, Daniele Bolla and Makarios Eleftheriades
Children 2022, 9(10), 1549; https://doi.org/10.3390/children9101549 - 12 Oct 2022
Viewed by 2171
Abstract
Conjoined twins represent a rare type of monoamniotic twins. Ultrasound assessment during the first trimester can facilitate the diagnosis, however further assessment by colour Doppler studies, 3D imaging, fetal echocardiography and fetal magnetic resonance imaging (MRI) is usually required in order to determine [...] Read more.
Conjoined twins represent a rare type of monoamniotic twins. Ultrasound assessment during the first trimester can facilitate the diagnosis, however further assessment by colour Doppler studies, 3D imaging, fetal echocardiography and fetal magnetic resonance imaging (MRI) is usually required in order to determine the specific fetal abnormalities and to guide appropriate pregnancy management. This case report presents a rare case of conjoined twins complicating a dichorionic-diamniotic triplet pregnancy, achieved after intracytoplasmic sperm injection (ICSI) and blastocyst transfer. A 44-year-old woman was referred for chorionicity determination to our Fetal Medicine Centre due to suspicion of conjoined twins in a triplet pregnancy. Ultrasound assessment at 11 weeks demonstrated a dichorionic triplet pregnancy which was also complicated by a rare type of conjoined twins (thoracoomphalopagus) and after a successful embryo reduction a neonate of 2200 g was delivered by caesarean section at term. The accurate diagnosis and early detection of conjoined twins by a fetal medicine specialist is crucial, especially as far as multiple pregnancies with three or more fetuses are concerned. Full article
(This article belongs to the Special Issue Developmental and Behavioral Pediatrics)
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12 pages, 1715 KiB  
Case Report
Familial Aggregation of a Novel Missense Variant of COL2A1 Gene Associated with Short Extremities: Case Report and Review of the Literature
by Panagiotis Christopoulos, Anna Eleftheriades, George Paltoglou, Eleni Paschalidou, Emmanouil Kalampokas, Lina Florentin, Chrysanthi Billi and Makarios Eleftheriades
Children 2022, 9(8), 1229; https://doi.org/10.3390/children9081229 - 14 Aug 2022
Viewed by 1427
Abstract
We present two cases of family members (first cousins) with short extremities caused by a novel variant of COL2A1 gene (NM_001844.5). Case 1 description: A 29-year-old woman presented in her first pregnancy for a second trimester anomaly scan at 23 weeks of gestation. [...] Read more.
We present two cases of family members (first cousins) with short extremities caused by a novel variant of COL2A1 gene (NM_001844.5). Case 1 description: A 29-year-old woman presented in her first pregnancy for a second trimester anomaly scan at 23 weeks of gestation. Fetal long bones were measured below the third centile for gestational age. Follow-up scans revealed fetal long bone growth deceleration. Initial genetic work-up was negative and the rest of the maternal follow-up was unremarkable. A male baby weighing 3180 g was delivered at 39 weeks and 4 days of gestation. Case 2 description: A 33-year-old pregnant woman presented for a routine second trimester anomaly scan at 20 weeks and 4 days of gestation. All fetal measurements were appropriate for the gestational age. The routine growth scan performed at 32 weeks showed fetal long bone measurements below the third centile for gestational age, while the follow-up growth scan at 36 weeks and 4 days of gestation revealed consistent, below the third centile, fetal long bone growth. Given that the fetuses of these two cases were related (first cousins), whole exome sequencing (WES) was performed on Case 2. WES revealed a novel heterozygous missense variant c.1132G>A (p. Gly378Ser) of COL2A1 gene (NM_001844.5). Subsequently, targeted genetic sequencing for the variant was performed on Case 1 and the same novel variant was found. Targeted sequencing revealed the same variant in the mother of Case 1 and the father of Case 2 (siblings). A female baby weighing 3200 g was delivered at 40 weeks and 4 days of gestation. Full article
(This article belongs to the Special Issue Developmental and Behavioral Pediatrics)
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24 pages, 455 KiB  
Systematic Review
The impact of Mayer–Rokitansky–Küster–Hauser Syndrome on Psychology, Quality of Life, and Sexual Life of Patients: A Systematic Review
by Ermioni Tsarna, Anna Eleftheriades, Makarios Eleftheriades, Emmanouil Kalampokas, Maria-Konstantina Liakopoulou and Panagiotis Christopoulos
Children 2022, 9(4), 484; https://doi.org/10.3390/children9040484 - 1 Apr 2022
Cited by 7 | Viewed by 2348
Abstract
Background: Mayer–Rokitansky–Küster–Hauser (MRKH) syndrome is a rare congenital syndrome characterized by uterovaginal agenesis. Most patients are diagnosed during adolescence, when body image and sexual identity are shaped. Our main objective was to investigate how MRKH syndrome affects psychology, quality of life (QoL), and [...] Read more.
Background: Mayer–Rokitansky–Küster–Hauser (MRKH) syndrome is a rare congenital syndrome characterized by uterovaginal agenesis. Most patients are diagnosed during adolescence, when body image and sexual identity are shaped. Our main objective was to investigate how MRKH syndrome affects psychology, quality of life (QoL), and the sexual life of patients compared with non-affected individuals. Methods: Original peer-reviewed research papers examining psychological outcomes, QoL, and sexual function of MRKH patients were searched in PubMed. Titles, abstracts, and full text from potentially eligible records were reviewed by two independent reviewers. Case reports and papers published not in English were excluded. Results: Our search identified 63 records, of which 20 were included: 10 examined psychological and psychosocial outcomes, 14 examined sexual function outcomes, and 6 examined QoL outcomes. Results may be affected by selection bias and confounding due to differences between MRKH patients and controls. Conclusions: MRKH could be associated with a higher prevalence of anxiety and depression symptoms and social insecurity compared with women of a similar age without the condition. MRKH could also be associated with greater pain and discomfort during sexual intercourse and limitations in arousal, lubrication, and orgasm. MRKH patients more commonly experience impairment of mental-health-related QoL, but physical-health-related QoL is not affected. Full article
(This article belongs to the Special Issue Developmental and Behavioral Pediatrics)
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16 pages, 418 KiB  
Systematic Review
Neurodevelopmental Outcomes in Tetralogy of Fallot: A Systematic Review
by Kalliopi Kordopati-Zilou, Theodoros Sergentanis, Panagiota Pervanidou, Danai Sofianou-Petraki, Konstantinos Panoulis, Nikolaos Vlahos and Makarios Eleftheriades
Children 2022, 9(2), 264; https://doi.org/10.3390/children9020264 - 15 Feb 2022
Cited by 5 | Viewed by 5383
Abstract
BACKGROUND: Tetralogy of Fallot (TOF) represents between 7 and 10% of the total cases of congenital heart defects (CHD) and is estimated to be the most common cyanotic CHD, requiring medical or surgical intervention within the first year of life. Current advances in [...] Read more.
BACKGROUND: Tetralogy of Fallot (TOF) represents between 7 and 10% of the total cases of congenital heart defects (CHD) and is estimated to be the most common cyanotic CHD, requiring medical or surgical intervention within the first year of life. Current advances in prenatal screening and fetal echocardiography led to increased rates of prenatal diagnosis of TOF. Furthermore, improvements in initial medical care, surgical repair, and long-term care are associated with excellent long-term survival until adulthood. Consequently, issues of morbidity have come under the spotlight, specifically neurodevelopmental and psychiatric adverse outcomes, which affect the quality of life of TOF survivors. METHOD: This study is a systematic review of English articles, using PUBMED and applying the following search terms, Tetralogy of Fallot, neurodevelopment, autism, cerebral palsy, attention-deficit hyperactivity disorder. Data were extracted by two authors. RESULTS: Most researchers suggest that TOF survivors score lower in neurodevelopmental tests than healthy populations of the same age and are in danger of neurodevelopmental impairments. Furthermore, it is suggested that TOF adolescents show higher rates of psychiatric disorders. CONCLUSIONS: The neurodevelopment of TOF survivors is not intensively studied. Existing studies in TOF survivors focus on different developmental aspects, using different evaluation methods and thus making conclusions for either one of the four aspects of neurodevelopment (executive function, cognition, and adaptive function, speech-language and motor function, or neuropsychiatric domain). The poor outcomes of these isolated studies indicate the need for future research as well as for continuous neuropsychological assessment and close monitoring of children and adolescents with TOF. Full article
(This article belongs to the Special Issue Developmental and Behavioral Pediatrics)
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16 pages, 686 KiB  
Systematic Review
Test of Motor Proficiency Second Edition (BOT-2) Short Form: A Systematic Review of Studies Conducted in Healthy Children
by Danilo Radanović, Dušan Đorđević, Mima Stanković, Damir Pekas, Špela Bogataj and Nebojša Trajkovic
Children 2021, 8(9), 787; https://doi.org/10.3390/children8090787 - 9 Sep 2021
Cited by 7 | Viewed by 3731
Abstract
Motor skill competence of children is one of the important predictors of health because if a child is physically active during early childhood, the possibility of occurrence of many chronic diseases in adulthood will be reduced. The aim of this study was to [...] Read more.
Motor skill competence of children is one of the important predictors of health because if a child is physically active during early childhood, the possibility of occurrence of many chronic diseases in adulthood will be reduced. The aim of this study was to systematically review the studies conducted in healthy children using the shorter form of the Bruininks-Oseretsky (BOT-2) and to determine the applicability in cross-sectional studies and pre-post designs. The search and analysis of the studies were done in accordance with the PRISMA guidelines. An electronic databases search (Google Scholar, PubMed, Mendeley, Science Direct, and Scopus) yielded 250 relevant studies conducted from 2011 to 2020. A total of 21 studies were included in quantitative synthesis, with a total of 3893 participants, both male and female. Through this study, the BOT-2 test proved its broad applicability, so it can be concluded that this test can be used to improve motor proficiency in a healthy population of children. Hence, it is necessary to invest a lot of time during the implementation of various programs so that children would adequately develop their basic motor skills so they broaden their own repertoire of movements. Full article
(This article belongs to the Special Issue Developmental and Behavioral Pediatrics)
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