Syrian child carrying multiple pathogenic variants in MBOAT7 and MT-TS1 genes: a case report on neurodevelopmental phenotypes and mitochondrial inheritance.

Introduction: The authors identify two patterns of inheritance in a Syrian child from consanguineous parents. The membrane-bound O-acyltranferase domain-containing7 (MBOAT7) gene encodes Lysophosphatidylinositol acyltranferase (LPIAT1), which is responsible for the neurodevelopment of the brain cortex. Patients with MBOAT7 variants exhibit pathogenic nervous manifestations such as global developmental delays affecting speech and motor function, intellectual disability (ID), poor coordination, and seizures, with or without MRI abnormalities. MT_TS1, the mitochondrial tRNASer(UCN) gene, is a hotspot for pathogenic mutations causing variable mitochondrial phenotypes, including hearing impairment (HI), ataxia and cognitive impairment. Clinical presentation: The authors present a case of a 4-year-old child with motor and speech delay, truncal hypotonia, visual tic, poor coordination, autistic features and generalized seizures at 7 months of age. After normal results from lab tests and MRI imaging, along with the family's history of neurological disorders, genetic analysis was necessary to diagnose and assess the possibility of genetic counselling. Next-generation sequencing (NGS) showed two variable variants in the MBOAT7 and MT-TS1 genes. The first mutation is a homozygous variant of uncertain significance in the MBOAT7 gene, associated with the autosomal recessive Mental retardation type 57. The second variant is a heteroplasmic pathogenic variant in the MT-TS1 gene, indicative of mitochondrial disorders. Conclusion: The presence of the MBOAT7 and MT-TS1 gene variants in the same child is noteworthy. The authors must keep genetic mutations of MBOAT7 and MT-TS1 gene in mind as a differential diagnosis for intellectual disability, seizures and autistic features in children, especially in consanguineous families.

A Rare Cause of Intellectual Disability.

A seven-year-old female was followed in a developmental clinic from the age of nine months due to delayed psychomotor development. The first physical examination showed a newborn with irritability and a large anterior fontanelle. A transfontanellar ultrasound was performed, revealing mild enlargement of the lateral and third ventricles. Head circumference remained below the third percentile until the age of five months, then rose to the third percentile. Developmental milestones were globally delayed, with expressive language being more severely affected and axial hypotonia with appendicular hypertonia on neurological examination. Subsequent medical observation revealed deep-set eyes, mildly up-slanted palpebral fissures, a high nasal bridge with a broad nasal tip, a thin upper lip, widely spaced teeth, retrognathia, and a slight pectus excavatum. Genetic investigation revealed the diagnosis, with whole-exome sequencing consistent with the genetic diagnosis of autosomal dominant mental retardation type 7 (MRD7). All patients diagnosed with MRD7 have a development delay detected at a young age and, typically, a mild to severe intellectual disability later in life. All individuals present language impairment, especially in verbal expression. Motor development is typically affected by gait disturbances and generalized hypertonia, which are noted early in life. Microcephaly is a prominent feature of this syndrome, present in over 90% of the cases. The most common findings in MRD7 (microcephaly and intellectual disability) have a broad differential diagnosis. Some disorders have multiple findings in common with MRD7, such as Angelman syndrome (AS), MECP2 disorders, or Mowat-Wilson syndrome (MWS). MRD7 is a rare genetic syndrome characterized by developmental delay/intellectual disability, microcephaly, autism spectrum disorder, behavior problems, typical facial features, and seizures. Early intervention is more likely to be effective and potentially change a child's developmental path. Small gains early in life could represent a significant difference in the children's future autonomy.

Does Intrauterine Exposure to Diabetes Impact Mental and Motor Skills? A Meta-Analysis of the Bayley Scales of Infant Development.

BACKGROUND: Attempts to conduct meta-analyses of the association between child development and diabetes have been limited by the wide range of tools and definitions of developmental outcomes used in the literature. We aim to meta-analyze a widely used measure of child development, the Bayley Scales of Infant Development, with respect to exposure to diabetes and developmental scores. METHODS: PsycINFO, MEDLINE/PubMed, EMBASE, Emcare, and Google Scholar databases were searched. Two independent reviewers screened, extracted, and quality-appraised the studies using JBI SUMARI software. Forest plots were created with the standardized mean difference using the random-effects model, and heterogeneity was assessed using I2. RESULTS: Seven studies were identified. The pooled results on psychomotor and mental development index mean scores were lower for infants born to mothers with diabetes than for the control group (Cohen's d = -4.49, df = 7, I2 = 0%, p = 0.001 and Cohen's d = -3.4, df = 9, I2 = 27%, p = 0.001, respectively). Effects were larger in infants born to mothers with type 1 and 2 diabetes and at age 12 months. CONCLUSIONS: Maternal diabetes should be considered as a risk factor for children's development, mainly when born to mothers with pre-existing diabetes.

The Long-Term Outcome of Children Conceived Through Assisted Reproductive Technology.

Assisted reproductive technology (ART) led to the birth of 60,381 infants in 2020 in Japan. This number is set to increase as the future interest in ART is anticipated to rise. Couples receiving ART are monitoring the outcomes of these treatments to see whether any differences exist between babies conceived naturally and those conceived via ART. This study investigated the relationship between the long-term outcome of children born from ART with a focus on physical and psychomotor developments. A large volume of data concerning each relationship with ART was collected from various observational studies. Several findings indicate that, over time, the physical characteristics of babies born by ART, and those born naturally are comparable. However, some reports indicate that, until they reach school age, there may be a small difference in growth. ART and naturally conceived children do not vary in academic achievement or attention deficit hyperactivity disorder. Taken together, it is difficult to conclude with certainty that ART is the source of these differences since they may arise from the child's genetic factors or their environment.

Early psychomotor development and growth hormone therapy in children with Prader-Willi syndrome: a review.

Prader-Willi syndrome (PWS) is a rare genetic disorder caused by the loss of imprinted gene expression on the paternal chromosome 15q11-q13. PWS is characterized by varying degrees of early psychomotor developmental deficits, primarily in cognition, language, and motor development. This review summarizes the early mental cognitive development, language development, and motor development in patients with PWS, compares the correlation of genotype with phenotype, and provides an update regarding the effects and concerns related to potential main side effects of treatment with recombinant human growth hormone on early psycho-cognitive and motor function development along with the linear growth and body composition of children with PWS.Conclusion: Early psychomotor development is strongly correlated with the prognosis of patients with PWS; moreover, current studies support that the initiation of interventions at an early age can exert significant beneficial effects on enhancing the cognitive and linguistic development of patients with PWS and allow them to "catch up" with motor development.  What is Known: • Prader-Willi syndrome is a rare genetic disorder characterized by multisystem damage, and children with Prader-Willi syndrome are typically characterized by early developmental delays, specifically in the areas of cognitive and motor development. • Recombinant human growth hormone therapy is the only medical treatment approved for Prader-Willi syndrome. What is New: • Extensive presentation of psycho-cognitive and motor development features and genotype-phenotype correlation in children with Prader-Willi syndrome.  • The effects of growth hormone on early psychomotor development in children with Prader-Willi syndrome were thoroughly reviewed, including their short- and long-term outcomes and any associated adverse effects.

Los juegos psicomotrices: un rol importante en niños de tres a cuatro años

Promover la estimulación del desarrollo motriz para niños de tres a cuatro años y aprovechar las potencialidades del Programa Educa a Tu Hijo mediante el papel de las familias, la comunidad y los docentes se consideran premisas para el desarrollo del pensamiento creativo que incluye el papel de los juegos en la formación integral, a partir de la ejecución de acciones motrices básicas. Por lo que, se propuso como objetivo de la investigación diseñar un sistema de juegos psicomotrices para los niños de tres a cuatro años del Programa Educa tu Hijo que favorezcan su desarrollo psicomotor. Esto, dio la posibilidad de capacitar a familiares, comunidad y docentes con un enfoque formativo integrador para la motivación del aprendizaje de la motricidad. Los juegos creados dieron muestra de buenas prácticas creativas, incluyeron acciones para expresar el sentir y el deseo de la muestra seleccionada. Para evaluar la temática fueron empleados los métodos teóricos análisis-síntesis, inductivo-deductivo y sistémico-estructural-funcional, empíricos análisis documental, observación, entrevista a los profesores, encuesta a la familia, así como métodos matemático-estadísticos. Por lo que, se ha llegado a la conclusión que los juegos psicomotrices, si se planifican de manera adecuada tienen un impacto positivo en las relaciones sociales, en lo cognitivo, el lenguaje, los sentimientos y las formas en que familiares, comunidad y docentes se preparan para potenciar la formación integral de sus hijos.

Promover a estimulação do desenvolvimento motor de crianças de três a quatro anos e aproveitar as potencialidades do Programa Eduque Seu Filho por meio do papel das famílias, da comunidade e dos professores são considerados premissas para o desenvolvimento do pensamento criativo que inclui o papel dos jogos no treinamento integral, baseado na execução de ações motoras básicas. Portanto, o objetivo da pesquisa foi propor um sistema de jogos psicomotores para crianças de três a quatro anos do Programa Educa tu Hijo que promovam seu desenvolvimento psicomotor. Isto deu a possibilidade de treinar familiares, comunidade e professores com uma abordagem de formação integrativa para motivar a aprendizagem motora. Os jogos criados apresentaram boas práticas criativas, incluíram ações para expressar os sentimentos e desejos da amostra selecionada. Para avaliar o tema foram utilizados os métodos teóricos de análise-síntese, indutivo-dedutivo e sistêmico-estrutural-funcional, análise documental empírica, observação, entrevista com professores, inquérito familiar, além de métodos matemático-estatísticos. Portanto, concluiu-se que os jogos psicomotores, se planejados de forma adequada, têm impacto positivo nas relações sociais, cognitivas, na linguagem, nos sentimentos e nas formas como os familiares, a comunidade e os professores interagem.

Promoting the stimulation of motor development for children aged three to four years and taking advantage of the potential of the Educa tu Hijo Program through the role of families, the community and teachers are considered premises for the development of creative thinking that includes the role of games in comprehensive training, based on the execution of basic motor actions. Therefore, it was proposed as the objective of the research design a system of psychomotor games for children aged three to four years of the Educa tu Hijo Program that promote their psychomotor development. This gave the possibility of training family members, the community and teachers with an integrative training approach to motivate motor learning. The games created showed good creative practices, they included actions to express the feelings and desires of the selected sample. The theoretical methods used to evaluate the topic were analysis-synthesis, inductive-deductive and systemic-structural-functional, the empirical ones were documentary analysis, observation, interview with teachers, family survey, as well as mathematical-statistical methods. Therefore, it has been concluded that psychomotor games, if planned appropriately, have a positive impact on social relationships, cognitive, language, feelings and the ways in which family members, the community and teachers interact. prepare to enhance the comprehensive education of their children.

Developmental Trajectory of Depressive Symptoms from Early Childhood through High School in Children and Adolescents with a High Intellectual Potential.

We aimed to explore the developmental trajectory of depressive symptoms in a national sample of French children with a high intellectual potential (HIP) seeking help from gifted organizations. Participants were drawn from a national retrospective survey sent to 1200 families with HIP children (IQ ≥ 130) from primary to high school and they answered a self-report questionnaire of a depression scale (MDI-C). The children's parents completed a self-report questionnaire collected on different stages of the child's school level, perinatality, psychomotor development, health, family's history, behavior, interpersonal relationships and daily activities, school performance, presence of learning disorders and remediation. Four hundred and twenty HIP children were eligible with an IQ ≥ 130 aged from 8 to 17 years-old, 49% with depressive symptoms and 51% with no depressive symptoms. Analysis of 136 variables from anamnestic fields based on the use of Spearman's ρ test (ρ) with a non-parametric correlations showed that "learning disabilities" are significantly related to depressive symptoms in different groups (primary p = 0.001, middle p = 0.02, high school p = 0.001) as well as "difficulties in psychomotor skills" during primary (p = 0.003) and middle school (p = 0.02). Good relationships with family as well as with peers are significantly negatively correlated with depressive symptoms from childhood to primary (p = 0.003) and high school (p = 0.02). Certain details of correlations between the MDI-C scale's subfactors and anamnestic variables were analyzed. The ANOVA test about the MDI-C scale showed provocation as a significant marker at middle school (F (1, 418) = 3.487, p = 0.03) and low self-esteem at high school (F (1, 418) = 3.337, p = 0.03). A holistic developmental approach allowed us to highlight the risk factors of depression with a developmental trajectory origin linked to disorders of social adjustment and psychomotor skills and to the importance of misdiagnosed learning disabilities because of giftedness. Our findings support the interest in an early identification of and intervention in depression risk to improve clinical decision making on the effect of giftedness on mental health outcomes.

Developmental outcome of children with Robin sequence treated with the current Paris protocol.

AIM: We aimed to investigate the developmental outcome of children with Robin sequence (RS) for whom continuous positive airway pressure was the main strategy to release upper airway obstruction. METHODS: We included children with isolated RS or RS associated with Stickler syndrome who were aged 15 months to 6 years. We used the French version of the Child Development Inventory and calculated the developmental quotient (DQ) for eight different domains and the global DQ (DQ-global). We searched for determinants of risk of delay. RESULTS: Of the 87 children, for 71%, the developmental evolution was within the norm (DQ-global ≥86 or ≥-1 SD), 29% were at high risk of delay (DQ-global <86 or <-1 SD), and only 3% were at very high risk of delay (DQ-global <70 or <-2 SD). The DQs for expressive language and language comprehension were lower in our study population than the general population, but an improvement was noticed with the children's growth. CONCLUSION: Risk of a developmental delay was not greater for children with the most severe respiratory phenotype than the others. Children whose mothers had low education levels were more at risk than the others.

Prospective assessment of early developmental markers and their association with neuropsychological impairment.

Children who experience adversities in the pre-perinatal period are at increased risk of developing impairment later in life, despite the absence of overt brain and neurological abnormalities. However, many of these children exhibit sequelae several years after a period of normal appearance. As a result, the need for reliable developmental assessments for the early detection of infants at high risk of adverse neurodevelopmental outcomes has emerged. The Griffiths Mental Developmental Scales have a promising but poorly explored prognostic ability. This longitudinal study evaluated the predictive power of the Griffiths Mental Developmental Scales at 12 and 24 months on the cognitive and neuropsychological profile at 6 years of age in a sample of 70 children with a history of prematurity or perinatal asphyxia but without brain and neurological abnormalities. We found that the Griffiths Mental Developmental Scales at 24 months had good predictive ability on the intelligence quotient at 6 years and the capacity to predict some neuropsychological performances. On the other hand, the Griffiths Mental Developmental Scale at 12 months was not associated with the performance at 6 years or 24 months.   Conclusion: Data on brain development converge to indicate that the first two years of age represent a critical stage of development, particularly for children experiencing mild pre-perinatal adversities who are thought to exhibit white matter dysmaturity. For this reason, this age is crucial for identifying which children are at major risk, leaving enough time to intervene before overt deficits become apparent. Brain development in the first 2 years could explain the limited reliability of early neurodevelopmental testing. What is Known: • Pre-perinatal adversities increase the risk of developing neurodevelopmental disorders. • The predictive ability of the Griffith scale is poorly explored in low-grade conditions. What is New: • The predictive ability of the Griffith scale has been investigated in low-risk children. • A complete neuropsychological profile could offer a more accurate prediction than the intellectual quotient.

Percepción familiar de la vigilancia del desarrollo psicomotor en niños menores de un año / Family Perception about Surveillance of Psychomotor Development in Infants Aged less than one Year

Introducción: El desarrollo psicomotor es un proceso gradual y continuo; las familias cubanas necesitan herramientas que les permitan vigilarlo. Objetivo: Describir las percepciones que poseen las familias de la vigilancia del desarrollo psicomotor de sus hijos menores de un año. Métodos: Se realizó una investigación cualitativa, de tipo fenomenológica, en el Consultorio del Médico y la Enfermera de la Familia No. 9 del Policlínico Universitario Héroes del Moncada, La Habana, de noviembre 2019 a febrero 2022. El referente teórico fue el Modelo de Traducción del Conocimiento. Las unidades de análisis fueron ocho familias que tenían un niño menor de un año, a las que se aplicó el Método Creativo Sensible, mediante la dinámica de arte del Árbol del conocimiento. Se grabaron las sesiones, y las narrativas fueron transcritas en un cuerpo textual a las que se les realizó análisis de contenido. Resultados: Las familias expresaron que la llegada del niño significó alegría y unión familiar; así como la necesidad de contar con diferentes materiales que ayudaran para la vigilancia del desarrollo psicomotor. De las 33 pautas analizadas fue necesario traducir tres al lenguaje familiar. Conclusiones: El nacimiento de un hijo tuvo un efecto favorable. La dinámica empleada fue efectiva para el propósito de la descripción de las pautas del desarrollo psicomotor para niños cubanos por las familias estudiadas. Se evidenció la necesidad de algún tipo de herramienta para la vigilancia del desarrollo psicomotor(AU)

Introduction: Psychomotor development is a gradual and continuous process; Cuban families need tools that allow them to monitor it. Objective: To describe the families' perceptions with respect to monitoring the psychomotor development of their infants aged less than one year. Methods: A qualitative research, of phenomenological type, was carried out in the family doctor and nurse's office 9, belonging to Policlínico Universitario Heroes del Moncada, of Havana, from November 2019 to February 2022. The theoretical reference was the knowledge translation model. The units of analysis were 8 families with an infant aged less than one year and applied the creative sensitive method, using the art dynamics of the tree of knowledge. The sessions were recorded, and the narratives were transcribed into a textual body later subjected to content analysis. Results: The families expressed that the arrival of the child meant joy and family unity, as well as the need to have different materials that help monitor the child's psychomotor development. Of the 33 guidelines analyzed, it was necessary to translate three into a family language. Conclusions: The birth of a child had a favorable effect. The used dynamics was effective for the purpose that the studied families describe psychomotor development guidelines for their Cuban children. The need for some kind of tool for monitoring of psychomotor development was evidenced(AU)

Knowledge Attitude and Practice (KAP) survey among healthcare professionals in pediatrics on the psychomotor development of children. Case of urban and rural health areas in South Kivu in the Democratic Republic of Congo: a cross-sectional study.

Development refers to change. The study of development is the understanding of how a subject functions at a particular age or time in life. The objective of this study was to evaluate the knowledge, attitude, and practice of pediatric healthcare personnel on the psychomotor development of the child. Methods: This was a cross-sectional study of knowledge, attitude, and practice conducted in the health areas of South Kivu. Results: Twenty-six caregivers participated in the survey. Men were the most represented (61.5%), mean age 27.62±5.07 years; median experience in pediatrics: 1 year; predominantly urban setting with 69.2%. General practitioners were more represented, with 57.7%. The overall state of knowledge was insufficient in 69.2%. Knowledge1 improves with increasing experience in pediatrics (P=0.008), and qualification improves knowledge1 (P=0.033) and knowledge3 (P=0.009). Knowledge4 improved from rural to urban settings (P=0.022).A good knowledge of the scales used in the evaluation of psychomotor development influences the use of one or the other (P=0.000). The authors also notice that those who indicate and/or have physical therapy practiced in rehabilitation are generally those who have a good knowledge of the use of psychomotor development assessment tools (P=0.010). Conclusion: This study highlights the low theoretical knowledge of caregivers on psychomotor development in our study setting, resulting in late diagnosis and consequently poor treatment of psychomotor development disorders. The results of this study indicate a need for continuing education for pediatric caregivers on the psychomotor development of the child.

Duration of Neonatal Antibiotic Exposure in Preterm Infants in Association with Health and Developmental Outcomes in Early Childhood.

Over 90% of preterm neonates are, often empirically, exposed to antibiotics as a potentially life-saving measure against sepsis. Long-term outcome in association with antibiotic exposure (NABE) has insufficiently been studied after preterm birth. We investigated the association of NABE-duration with early-childhood developmental and health outcomes in preterm-born children and additionally assessed the impact of GA on outcomes. Preterm children (GA < 30 weeks) participating in a multicenter cohort study were approached for follow-up. General expert-reviewed health questionnaires on respiratory, atopic and gastrointestinal symptoms were sent to parents of children > 24 months' corrected age (CA). Growth and developmental assessments (Bayley Scales of Infant and Toddler Development (BSID) III) were part of standard care assessment at 24 months' CA. Uni- and multivariate regressions were performed with NABE (per 5 days) and GA (per week) as independent variables. Odds ratios (OR) for health outcomes were adjusted (aOR) for confounders, where appropriate. Of 1079 infants whose parents were approached, 347 (32%) responded at a mean age of 4.6 years (SD 0.9). In children with NABE (97%), NABE duration decreased by 1.6 days (p < 0.001) per week of gestation. Below-average gross-motor development (BSID-III gross-motor score < 8) was associated with duration of NABE (aOR = 1.28; p = 0.04). The aOR for constipation was 0.81 (p = 0.04) per gestational week. Growth was inversely correlated with GA. Respiratory and atopic symptoms were not associated with NABE, nor GA. We observed that prolonged NABE after preterm birth was associated with below-average gross-motor development at 24 months' CA, while a low GA was associated with lower weight and stature Z-scores and higher odds for constipation.

[Complex congenital heart disease : about a case of Noonan syndrome]. / Cas clinique. Cardiopathie congénitale complexe : à propos d'un cas de syndrome de Noonan.

We present the case of a young girl in whom pre-natal echocardiography showed double outlet right ventricle associated with severe infundibular- and pulmonary valve stenosis. The genetic testing has shown a mutation on the LZTR1 gene, which confirms the diagnosis of a Noonan Syndrome, also present in the mother and an elder sister. The infant was born premature at 34 weeks and 5 days of gestational age. During the neonatal period, feeding difficulties are noted linked to oral aversion and exacerbated by difficulties in the mother-child bond. At 1 month of age, the child presented hypoxic spells caused by the infundibular stenosis which required emergency aorto-pulmonary anastomosis placement ensuring sufficient pulmonary blood flow. This anastomosis needed to be replaced by a larger one at 9th month of age. The child is now 4 years old and has undergone a complete surgical correction. The multidisciplinary management englobes not only follow up in cardiology, genetics, neurology, ophthalmology and hematology but also feeding support and psychomotor development support. The socio-economic precariousness of the family leads to a constant assistance to allow the best possible development of the child.

Nous présentons le cas d'une fillette chez qui le diagnostic de cardiopathie congénitale de type ventricule droit à double issue avec communication interventriculaire, sténose infundibulaire et valvulaire pulmonaire sévères a été posé en période fœtale. Le bilan génétique a montré la présence d'une mutation du gène LZTR1, confirmant le diagnostic d'un syndrome de Noonan que présentent également la maman et une sœur aînée. L'enfant naît prématurément à 34 semaines et 5 jours d'aménorrhée. La période néonatale est marquée par des difficultés alimentaires liées à des troubles de l'oralité exacerbés par un attachement mère-enfant compromis. à l'âge de 1 mois, l'enfant présente des malaises hypoxiques en raison de la sténose infundibulaire nécessitant la mise en place en urgence d'une anastomose aorto-pulmonaire assurant un débit pulmonaire suffisant, anastomose qui devra être remplacée par une plus large à l'âge de 9 mois. La fillette actuellement âgée de 4 ans vient de bénéficier d'une cure chirurgicale complète. Le suivi multidisciplinaire comprend, outre les suivis cardiologique et génétique, le support à l'alimentation entérale, le suivi neurologique, ophtalmologique et hématologique ainsi que le soutien à la psychomotricité. La précarité psycho-socio-économique familiale nécessite une aide constante pour permettre à l'enfant d'évoluer favorablement dans son milieu familial.

Longitudinal developmental profile of newborns and toddlers treated for spinal muscular atrophy.

Background: Spinal muscular atrophy (SMA) results from a loss-of-function mutation in the SMN1 gene. SMA patients suffer progressive motor disability, although no intellectual impairments have been described. Three drugs have been recently approved by the US Food and Drug Administration (FDA) and the European Medicines Agency (EMA). These drugs result in longer life expectancy for SMA type 1 (SMA1) patients. Objective: The objective of the study was to assess longitudinally the psychomotor development of patients with SMA1 treated after the symptom onset and of patients treated presymptomatically. Design: Longitudinal, monocentric, noninterventional, prospective study. Methods: Our study included 11 SMA1 patients and seven presymptomatic SMA patients. The SMA1 patients were treated with an approved drug beginning after onset of symptoms; treatment for the presymptomatic patients was begun before symptom onset. They were longitudinally evaluated between September 2018 and January 2022 using the Bayley Scales of Infant and Toddler Development™ - Third Edition. Results: At each time point, all patients treated presymptomatically scored above those treated postsymptomatically on the motor scale. The cognitive scores of six of the seven patients treated presymptomatically were average; one patient was in the low average range. In the 11 postsymptomatically treated patients, four scored either in the low average or the abnormal range on the cognitive scale, but a positive trend was observed during the follow-up. Conclusion: A significant proportion of patients treated postsymptomatically scored below average on cognitive and communicative scales, with most significant concerns raised about the age of 1 year. Our study indicates that intellectual development should be considered as an important outcome in treated SMA1 patients. Cognitive and communicative evaluations should be performed as part of standard of care, and guidance should be provided to parents for optimal stimulation.

Temperamental and psychomotor predictors of ADHD symptoms in children born after a threatened preterm labour: a 6-year follow-up study.

Children born after threatened preterm labour (TPL), regardless of whether it ends in preterm birth, may represent an undescribed "ADHD cluster". The aim of this cohort study is to identify early temperament and psychomotor manifestations and risk factors of TPL children who present ADHD symptoms. One hundred and seventeen mother-child pairs were followed from TPL diagnosis until the child's 6 years of life. TPL children were divided according to the prematurity status into three groups: full-term TPL (n = 26), late-preterm TPL (n = 53), and very-preterm TPL (n = 38). A non-TPL group (n = 50) served as control. Temperament and psychomotor development at age 6 months and ADHD symptoms at age 6 years were assessed. Perinatal and psychosocial factors were also recorded. All TPL groups showed higher severity of ADHD symptoms compared with non-TPL children (difference in means + 4.19 for the full-term group, + 3.64 for the late-preterm group, and + 4.99 for the very-preterm group, all ps < 0.021). Concretely, very-preterm and late-preterm TPL children showed higher restless/impulsive behaviours, whereas full-term TPL children showed higher emotional lability behaviours. Higher surgency/extraversion and delayed fine motor skills at age 6 months predicted ADHD symptoms at 6 years in TPL children. Male sex, maternal state anxiety symptoms at TPL diagnosis, low parental education, and past maternal experience of traumatic events predicted higher ADHD symptoms in TPL children. Therefore, TPL children may have a higher risk for developing ADHD symptoms, presenting a phenotype that depends on the prematurity status. Moreover, the specific combination of early manifestations and risk factors suggests that TPL children may conform an undescribed group at-risk of ADHD symptoms.

Long-term impact of tobacco exposure during pregnancy on children's psychomotor development.

BACKGROUND: Both active and second-hand smoking (SHS) can cause complications during pregnancy and after delivery. This study aimed to assess how tobacco exposure (active and passive) during the fetal period could impact the psychomotor development of children when they attain the age of 3-6 years. METHODS: The study included 160 mothers and their 3-6 year-old children. Two research groups were set up of children born to active or SHS mothers during the period when they were pregnant and a control group of children of non-smoking mothers. The parameters of the psychomotor development of the children were measured using the Age & Stage Questionnaires 3® (ASQ-3). RESULTS: Children, whose mothers were smokers themselves or who were exposed to SHS during the period of pregnancy had an average psychomotor development score of 221 points versus 243.5 points in the control group. Twenty-six percent had delays (near or under the cut-off scores) in one of the assessed psychomotor areas and 60% had two or more psychomotor delays; 36% of children whose mothers were not exposed to smoking during pregnancy had normal psychomotor development and only 34% presented multiple psychomotor delays. CONCLUSIONS: Fetuses exposed to tobacco are more likely to achieve a psychomotor development in the 'monitor' and 'fail' areas compared to the non-exposed control group. The children exposed to smoking during their fetal development should be considered as a group at risk of developmental delays, therefore they should be closely monitored and supported by caregivers and developmental pediatricians.

Factors Influencing Cortisol Concentrations in Breastmilk and Its Associations with Breastmilk Composition and Infant Development in the First Six Months of Lactation.

Previous studies provided contradictory results regarding the influence of maternal, seasonal, and infant factors on breastmilk cortisol, and its associations with breastmilk composition and infant development. This study aimed to assess breastmilk cortisol levels at the first, third, and sixth months of lactation and evaluate the associations with maternal psychosocial, seasonal, and infant factors, breastmilk composition, and infant anthropometric and psychomotor development and temperament. Cortisol concentrations were assessed by ELISA in 24 h breastmilk samples obtained from 38 healthy mothers. Maternal psychological status was assessed by EPDS and PSS-10 and infant psychomotor development was assessed using the Children's Development Scale (DSR). Breastmilk cortisol was 11.2 ± 6.2, 11.2 ± 4.3, and 12.7 ± 6.2 ng/mL at the first, third, and sixth months of lactation (p > 0.05), respectively. In the spring-summer season, we observed lower and higher levels of cortisol in the first and sixth months of lactation (p ≤ 0.05), respectively, but no other associations were detected regarding maternal or infant characteristics. In the third month of lactation, cortisol was related to breastmilk crude protein (ß = 0.318, 0.007-0.630) and infant BMI z-score before adjustment for infant birthweight and sex (Model 2: ß = 0.359, 0.021-0.697), but no other associations with breastmilk composition, infant development, or temperament were confirmed. Our results indicated that breastmilk cortisol is unrelated to maternal and infant factors and has limited influence on breastmilk crude protein, but not on infant anthropometric and psychomotor development.

Follow-up of increased nuchal translucency: Results of a study of 398 cases.

INTRODUCTION: Increased fetal nuchal translucency is associated with chromosomal as well as morphological abnormalities. The psychomotor development of children from these pregnancies is still unclear. The main objective of our study was to evaluate pregnancy outcomes and the post-natal progress of fetuses with increased nuchal translucency. We also compared the features of patients and fetuses according to their nuchal translucency measurement (above 3.5 mm or not). METHODS: Retrospective single-center study in 398 patients in a level 3 maternity unit in France. Mothers whose fetus had a nuchal translucency higher than the 95 th percentile between 2009 and 2018 were included. All patients who had a child with a normal karyotype were prospectively given a questionnaire to evaluate their child's psychomotor development. RESULTS: 37.4% (130/348) of fetuses had a chromosomal abnormality and 2.3% (5/218) had a normal karyotype but a pathogenic copy number variant diagnosed by array- CGH. 28.7% (77/268) of fetus without diagnosed chromosomal abnormalities, presented a morphological abnormality with predominant cardiac malformations. Fetuses with a nuchal translucency ≥ 3.5 mm, had more chromosomal abnormalities (p<0.0001) and were at higher risk of hypotrophy (p=0.005) and birth by cesarean (p=0.04). Among the liveborn children, 70% (166/238) were healthy without morphological or chromosomal abnormalities. Lastly, 17% (17/102) of these children had psychomotor disorder. CONCLUSION: According to our results, parents should be warned of the increased risk of hypotrophy and delivery by cesarean section for fetuses with a nuchal translucency ≥ 3.5 mm. We recommend prolonged specialized pediatric follow-up for children who have been carriers of increased nuchal translucency.

Cognitive Development in Lambdoid Craniosynostosis: A Systematic Review and Meta-Analysis.

OBJECTIVE: Lambdoid craniosynostosis affects approximately 1 in 33 000 live births per year, and surgical correction is often sought in order to achieve normocephaly and allow for adequate brain growth. However, the effects of lambdoid synostosis and its treatment on cognitive development are unknown. DESIGN: Systematic review and meta-analysis. PATIENTS, PARTICIPANTS: A systematic review of Ovid Medline, Embase, Web of Science, Scopus, Cochrane Central Register of Controlled Trials, and Clinicaltrials.gov was conducted in January 2022. Included studies assessed cognitive development of patients with nonsyndromic unilateral lambdoid craniosynostosis. MAIN OUTCOME MEASURES: Results of developmental tests were compared to normative data or controls to generate Hedges' g for meta-analysis. RESULTS: Nine studies met the inclusion criteria. Meta-analysis of 3 studies describing general cognition showed that cases scored significantly lower than their peers, but within 1 standard deviation (g = 0.37, 95% CI [-0.64, -0.10], P = .01). Meta-analysis of verbal and psychomotor development showed no significant differences in children with lambdoid synostosis. Studies were of fair quality and had moderate-to-high heterogeneity. CONCLUSIONS: Patients with lambdoid craniosynostosis may score slightly below average on tests of general cognition in comparison to normal controls, but results in other domains are variable. Analyses were limited by small sample sizes. Multidisciplinary care and involvement of a child psychologist may be helpful in identifying areas of concern and providing adequate scholastic support. Further research recruiting larger cohorts will be necessary to confirm these findings and extend them to other developmental domains such as attention and executive function.