Average Intelligence Quotient Research Articles

Prognostic and post-surgical updates in the treatment of non-syndromic craniosynostosis: a systematic review

Introduction: Craniosynostosis represents a rare congenital condition characterized by the premature fusion of one or more cranial sutures. The majority of cases of this disorder are non-syndromic in nature. Objective: This study aims to conduct an analysis and comparison of available surgical techniques, evaluating their respective postoperative outcomes in the treatment of non-syndromic craniosynostosis. The focus lies on assessing functional, aesthetic, and neurological outcomes. Methods: A systematic review was undertaken, encompassing the search for clinical trials (including randomized trials), systematic reviews, and meta-analyses available online in both Portuguese and English languages. The search terms "prognosis" and "non-syndromic craniosynostosis" were utilized along with the boolean operator "AND". Articles published between 2018 and 2023 were filtered through the Virtual Health Library (VHL) and PubMed platforms, specifically targeting studies presenting prognostic data related to craniosynostosis in pediatric patients up to 12 months of age. Results: The most favorable prognostic outcomes identified in this investigation were associated with conventional cranioplasty and minimally invasive endoscopic craniectomy techniques. Notably, conventional cranioplasty demonstrated superior intellectual outcomes among patients undergoing this procedure, with an average intelligence quotient of 111.7 ± 13 and academic performance aligning closely with national averages across various domains. Conversely, minimally invasive endoscopic craniectomy exhibited low rates of blood transfusion, complications, and reoperations. Conclusion: The findings underscore the superior cognitive prognosis associated with conventional cranioplasty, positioning it as a highly applicable surgical option for addressing craniosynostosis, supported by robust evidence.

MDB-56. CLINICAL OUTCOME AND SURVIVAL OF INFANT MEDULLOBLASTOMA PATIENTS: THE BAMBINO GESÙ CHILDREN’S HOSPITAL EXPERIENCE

Abstract Young children diagnosed with medulloblastoma (MB) pose a significant challenge due to the high susceptibility of the developing brain to neurotoxic agents such as craniospinal irradiation (CSI). Different innovative strategies were developed with the aim to enhance outcomes while either delaying or avoiding CSI. We describe a case series of patients affected by infant MB treated according to the Italian Infants High Risk recommendation. Retrospective data from 42 children with MB younger than 5 years of age at diagnosis treated between 2007 and 2023 at Bambino Gesù Children Hospital were recorded. Demographic, clinical, surgical, radiological, molecular, and histopathological data were collected. Overall survival (OS) and event-free survival (EFS) were calculated using the Kaplan-Meier method. Seventeen patients were excluded for first-line radiotherapy. Conclusively, 25 patients (13 male, 12 female) with a median age of 25.3 months at diagnosis were eligible for the analysis. Eleven patients had metastatic disease at diagnosis. Histotype: 13/25 classic, 6/25 desmoplastic nodular (DNMB), 4/25 extensive nodularity (MBEN) and 2/25 large cell/anaplastic. DNA methylation profile: SHH-subgroup: 12/25, group 3: 8/25 and group 4: 5/25. MYC amplification was detected in 3 cases. In five cases a cancer predisposition syndrome was found. The median duration of follow-up was 48 months. EFS at 12, 24 and 60 months was 80% (95%CI: 58.4-91.1), 72% (95%CI: 50.1-85.5), and 68% (95%CI: 46.1-82.5), respectively. OS at 12, 24 and 60 months was 80% (95%CI: 67.3-96), 80% (95%CI: 58.4-91.1) and 68% (95%CI: 46.1-82.5) respectively. Significant better survival was found for MBEN/DNMB histotype, with no significant difference between molecular subgroups. We reported high EFS and OS in a population of infant MB treated according Italian Infants High Risk recommendation. Our patients presented an average intelligence quotient in the normal range at a median follow-up of 4 years from diagnosis and no long-term toxicity after treatment.

Developmental changes in prefrontal cortex activation in children with or without autism spectrum traits on near-infrared spectroscopy

BackgroundAutism spectrum disorder (ASD) ranges from mild to severe symptoms, with autistic traits possibly distributed throughout the population. However, the precise neurodevelopmental differences in children with autistic traits remain unknown. Subjects and methodsFifty-three healthy volunteers (32 male and 21 female, mean [standard deviation] age: 12.9 [2.5] years) having a normal intelligence quotient and without social impairment were divided into two groups according to scores of the Pervasive Developmental Disorders Autism Society Japan Rating Scale (PARS). Subjects with or without autistic traits were placed into the high-PARS (n = 14) or low-PARS (n = 39) group, respectively. Activation of the prefrontal cortex was estimated using change in hemoglobin oxygenation concentration (Δ[oxy-Hb]) on near-infrared spectroscopy (NIRS) during a verbal fluency test. Age-related changes in prefrontal cortex activation were first assessed for each group. Then, the effects of age (elementary school age or junior/senior high school age) and PARS score on Δ[oxy-Hb] in the task were analyzed by two-way analysis of variance. ResultsWe observed significant positive correlations between mean Δ[oxy-Hb] and age in the prefrontal cortex region in the low-PARS group. Mean Δ[oxy-Hb] in the low-PARS group was significantly higher than in the high-PARS group. Task performance results were comparable between the groups. ConclusionIn PARS-determined typically developed children, prefrontal cortex activation on NIRS correlated positively with age. In healthy volunteers without ASD but harboring autistic traits, prefrontal cortex activation was markedly lower than in normal counterparts. Our results provide biological evidence that ASD may be a pervasively distributed disorder.

Influence of parental education on the intelligence quotient profiles and socially adaptive behavior of school-age children with autism spectrum disorder in eastern China.

Intelligence quotient (IQ) and adaptive behavior are the influencing factors of autism spectrum disorder (ASD) in children entering mainstream schools. This study explored the association between parental education level, IQ, and adaptive behavior in ASD groups. A total of 257 school-age ASD children were enrolled in our study from January 2017 to June 2021. Their parents completed a standard demographic form, including age at autism diagnosis, gender, school placement, and parents' educational background. The Chinese version of the Wechsler Intelligence Scale for Children, Fourth Edition (WISC-IV) was completed by a certified assessor for each enrolled child. Parents were interviewed on adaptive behavior using the Chinese version of the Adaptive Behavior Assessment System, Second Edition (ABAS-II). The average IQ of school-age ASD children was 76.88 (standard deviation (SD)=22.62) and boys had higher IQ levels than girls. The IQ was positively correlated with age. The General Adaptive Composite (GAC) score was 82.47 (SD=15.86) and adaptive behavior did not increase with age. ASD children who attended mainstream schools had better adaptive behavior profiles than other children. The mother's education level showed a significant correlation with the IQ and adaptive behavior of autistic children, while the father's education level did not. Consequently, better training and support for parents may help autistic children enter mainstream schools, with adaptive training being the most urgently required skill for parents.

Outcomes of children with constipation and autism spectrum disorder treated with antegrade continence enemas.

Treatment of functional constipation (FC) in children with autism spectrum disorder (ASD) is challenging due to sensory and behavioral issues. We aimed to understand whether antegrade continence enemas (ACEs) are successful in the treatment of FC in children with ASD. A single-institution retrospective review was performed in children diagnosed with ASD and FC who underwent appendicostomy or cecostomy placement from 2007 to 2019. Descriptive statistics regarding soiling and complications were calculated. There were 33 patients included, with a median age of 9.7 years at the time of ACE initiation. The average intelligence quotient was 63.6 (SD = 18.0, n = 12), the average behavioral adaptive score was 59.9 (SD = 11.1, n = 13), and the average total Child Behavioral Checklist score was 72.5 (SD = 7.1, n = 10). Soiling rates were significantly lower following ACE initiation (42.3% vs. 14.8%, p = 0.04). Behavioral issues only prevented 1 patient (3.0%) from proper ACE use. Eleven patients (36.6%) were able to transition to laxatives. There were significant improvements in patient-reported outcomes measures and quality of life. Placement of an appendicostomy or cecostomy for management of FC in children with severe ASD was successful in treating constipation and improving quality of life.

Impaired Neurodevelopment in Children with 5q-SMA - 2 Years After Newborn Screening.

Numerous studies have consistently found that reduced SMN protein expression does not severely affect cognitive function in SMA patients. However, the average intelligence quotient of SMA patients has ranged above to below average in different studies. The cognitive development of SMA patients identified through newborn screening remains largely unknown. 40 of 47 eligible SMA patients (23 females/17 males) from 39 families identified through newborn screening between January 2018 and December 2020 underwent developmental testing using Bayley III (BSID) after the 2 years of age. The mean age was 29.25 months (23-42 months). 17 patients had 2, 11 patients had 3 and 12 patients had ≥4 copies of SMN2. cognitive scale: mean 94.55 (SD 24.01); language scale: mean 86.09 (SD 26.41); motor scale: 81.28 (SD 28.07). Overall, the cognitive scales show that 14 children were below average, 20 children were average and 6 children were above average. 10/14 children with below average scores had 2 SMN2 copies. The post-hoc pairwise comparisons showed that the cognition main scale was significantly more sensitive to the number of SMN2 copies than the motor main scale of the BSID (MΔ= 10.27, p = 0.014). There is also evidence that cognition scored higher than the language main scale (MΔ= 7.11, p = 0.090). The impaired cognitive development of SMA children with 2 SMN2 copies, despite early initiation of therapy, underscores the critical role of the SMN protein in the early stages of brain development.

The Benefits of Acute Aerobic Exercise on Preadolescent Children's Learning in a Virtual Classroom.

Today's children are increasingly inactive, with >50% not meeting the recommended 60minutes of daily physical activity (PA). Recent reports suggest scores in reading and mathematics have also declined. Virtual reality (VR) is a technology that can be used to simulate real-world scenarios, like classroom learning. This study investigated whether a single dose of walking benefits learning in a VR classroom (measured via quiz performance). Forty-seven children (15 females, 9.64 [0.12]y) completed 2, randomized and counterbalanced 20-minute interventions on separate days: acute PA (walking) and seated rest (control), followed by a stationary educational lesson in a distracting VR classroom. Children then completed a quiz on the lesson. Children had higher quiz performance following PA (z-score = 0.16 [0.13]) compared with following rest (z-score = -0.18 (0.14); F1,45 = 6.17, P = .017), indicating that PA enhanced learning. Children with average intelligence quotient had quiz performance that was higher after PA (z-score = 0.04 [0.20]) compared with after rest (z-score = -0.60 [0.19]), t(22) = 3.34, P = .003. Higher intelligence quotient children did not demonstrate differences in quiz performance after PA compared with after rest. Learning in a VR classroom may be improved following acute PA, particularly for children with average intelligence quotient. These findings support public health guidelines promoting PA across the day.

ИССЛЕДОВАНИЕ УМСТВЕННЫХ СПОСОБНОСТЕЙ СТУДЕНТОВ АГРАРНОГО УНИВЕРСИТЕТА СЕВЕРНОГО ЗАУРАЛЬЯ

This article examines a study to find out the average IQ of students from one of the groups of the GAU of the Northern Trans-Urals. The results of a study on finding out the average IQ of 2nd year students are taken as a basis. 2nd year students of the Agroengineering training course of different profiles took part in an anonymous intellectual survey of the Eysenck test. The Eysenck Test is an intelligence quotient (IQ) test developed by the English psychologist Hans Eysenck. There are eight different variants of the Eysenck intelligence test. Any specialist of a technical and engineering specialty or profession needs the ability and abilities to analyze and synthesize spatial forms, to perceive ideas based by other developers and researchers in the drawing documentation. Students of the GAU of the Northern Trans-Urals demonstrated a significant amount of knowledge by answering interesting and difficult questions. At the end of the survey, it can be concluded that the abilities of students and the identification of predisposition to a certain mindset and assimilation of the material of educational programs are completely different and depend on different types of thinking. The article examines the mental abilities of university students and reveals a predisposition to a certain mindset and the assimilation of the material of educational programs. Engineering graphics, mathematics and physics help everyone to develop these abilities, do not forget about the humanities. A future specialist should not only calculate and draw, but also be able to correctly express and convey thoughts. For this purpose, both technical and humanitarian sciences are taught at our university.

Functional correlates of cognitive abilities vary with age in pediatric multiple sclerosis

BackgroundPediatric multiple sclerosis (PedMS) can hamper brain maturation. Aim of this study was to assess the neuropsychological profile of PedMS patients and their resting-state functional connectivity (RS FC). MethodsWe assessed intelligence quotient (IQ), executive speed, and language in 76 PedMS patients. On a 3.0T scanner RS FC of brain networks was estimated with a seed-based analysis (subset of 58 right-handed PedMS patients and 22 matched healthy controls). Comparisons were run between controls and PedMS (whole cohort and by age). ResultsNinety-five% of patients had normal IQ. The highest rate of failure was observed in executive speed. PedMS showed reduced RS FC in all networks than controls, especially in the basal ganglia. In younger patients (<16-year-old, n = 32) reduced RS FC in the basal ganglia, language, and sensorimotor networks associated with poorer cognitive performance (p < 0.05; r range: 0.39; 0.56). Older patients (≥16-year-old, n = 26) showed increased RS FC in the basal ganglia, default-mode, sensorimotor, executive, and language networks, associated with poorer performance in executive speed and language abilities (p < 0.05; r range: -0.40; -0.59). In both groups, lower RS FC of the caudate nucleus associated with poorer executive speed. ConclusionsThe effect of PedMS on RS FC is clinically relevant and differs according to patients’ age.

Co-morbid psychiatric disorders in children with arachnoid cyst

Arachnoid Cysts (AC) are benign lesions containing cerebrospinal fluid, and although most of them are asymptomatic, they can cause neurological symptoms like headaches, seizures, and neuropsychiatric problems. The aim of this study was to asses and document co-morbid psychiatric disorders in children with AC aged between 6 and 17. Wechsler Abbreviated Scale of Intelligence–Second Edition (WASI-II), a clinical measure used to assess the intelligence quotient (IQ) scores of the patients, Kiddie Schedule for Affective Disorders and Schizophrenia Present and Lifetime Version (K-SADS-PL; semi-structured interview) was used to assess psychiatric disorders among the patients. A total of 12 patients with AC was evaluated with an even distribution of males and females. Half of the patients had a normal IQ score with a mean IQ score of 104.5. Among patients with normal IQ scores, one patient had epilepsy and attention deficit hyperactivity disorder and two patients had epilepsy without any psychiatric disorder. The remaining six patients had moderate intellectual disability with a mean IQ of 48.2. Among them, three out of six had epilepsy and four had accompanying psychiatric disorders. It is therefore apparent that patients with AC have a high rate of co-morbid psychiatric disorders. Our study demonstrates that intellectual disability and psychiatric disorders should be evaluated in children with AC in the clinical settings.

Poor School Performance As an Indicator of Severity of Sickle Cell Disease

Purpose: Patients with sickle cell anemia can have long term neurocognitive deficits throughout their lifespan. The purpose of this study is to conduct neuropsychiatric evaluations and brain imaging to determine if individuals who have higher risk of falling behind in education can be identified, emphasize the importance of addressing educational needs of these patients, and identify patients who are at risk of developing further complications. Methods: IRB approved retrospective study of patients with Hemoglobin SS disease, who underwent Stanford-Binet Intelligence testing and Woodcock Johnson Achievement. All patients who underwent cognitive testing and also received a transcranial doppler ultrasound or magnetic resonance imaging between were included. All patients were referred to neuropsychiatric testing due to poor school performance. Results: 33 patients were included who underwent neuropsychiatric testing. These students were referred due to poor school performance. Of those, 15 patients had additional imaging studies. All patients were identified with hemoglobin SS disease. All patients were African American. The median age was 9 with an age range of 6 to 16 with a median grade was 4. This sample included 12 females and 3 males. 73% (11 of 15 individuals) were identified with below average full scale intelligence quotient. Of these, 46% (6 of 11) had measurable changes in MRI or transcranial doppler results. 5 of them had measurable changes in transcranial doppler and changes in their MRI, while 1 patient had a normal transcranial doppler, but showed changes in their MRI. On average, the maximum mean velocity was 164 cm/s and was higher than the patients with normal intelligence quotient scores at 148cm/s. The remaining 5 individuals also had below average full scale intelligence quotient without any findings on imaging. All 11 individuals also had below average scores in academic application, academic fluency, and academic skills. On average these patients were 3 years behind on reading, 2 years behind on math, and 2 years behind writing. Only one of these patients had an individualized education plan with extra assistance for education. 7 of the 11 patients with below average full scale intelligence quotients were on hydroxyurea and 2 of the 4 patients with average scores used hydroxyurea. The average hemoglobin level in the group that performed below average was 9.5 and 8.9 in the group that performed average. While, all patients who had average scores on the stanford-binet test did not have any abnormal transcranial dopplers and they all had delays in math, reading, and writing. Conclusion: Below average intelligence and delays in academic performance may be an indicator of patients at risk of developing further complications such as stroke.The full extent to this relationship is unclear. Further research is needed to determine the relationship between intelligence, academic performance and changes in imaging. Earlier detection of these patients can prevent further complications, develop individual treatment plans, and target closer monitoring. A multidisciplinary approach to treating patients with sickle cell disease should include neuropsychiatric evaluations, an assessment of academic achievement, and the opportunity for additional support in school to fully address the needs of this population.

Citrullinemia and What Else?

Citrullinemia type I (CTLN1) is a rare autosomal recessive metabolic disorder. Symptoms typically include vomiting, lethargy, seizures and coma. In neonatal presentation, death occurs in days if untreated. Survivors may evolve with neurocognitive dysfunction. Two 10 years old, non-identical, twin sisters (S1; S2) with CTLN1 were born after a 36W gestation: S1 by eutocic delivery and S2 by cesarean section with nuchal cord (Apgar score 5/10). On day four, S2 presented hyperammonemia with coma. S1 had no complications. Diagnosis followed that of S2. Neurocognitive development was monitored at 3 months - 4 years of age with Griffiths Scales: global development quotient kept within the average, but S2 had a deficit in language and eye and hand coordination. At 5 years, the neurocognitive abilities were evaluated using Wechsler Preschool and Primary Scale of Intelligence - Revised (WPPSI-R). S2 revealed difficulties in verbal area (vocabulary, comprehension and memorizing sentences), with a lower average verbal intelligence quotient (IQ). S1 had high average IQ. Due to learning difficulties, S2 was reassessment at 8 years old with Wechsler Intelligence Scale for Children - Third edition (WISC-III): full-scale IQ -"extremely low". These non-identical twin sisters share the same citrullinemia type 1 causing variants in the ASS1 gene. Nevertheless, their clinical presentation and neurocognitive evolution are diverse. Other factors, like the different genetic background and perinatal issues such as the type of delivery and its circumstances and the neonatal coma episode of S2 may explain the dissimilar evolution. Maximum ammonium levels (and its duration) are critical for the patients' neurodevelopment: 131 in S1 and 546 umol/l in S2.

Prevention of Prenatal Stunting at Bhayangkara Hospital Nganjuk

Efforts to prevent stunting are not only carried out at public health centers, but all agencies are expected to actively participate in preventing stunting, especially hospitals which are required to implement national programs regarding stunting. Stunting is a problem of chronic malnutrition caused by a lack of nutritional intake over a long period of time. This causes problems in the future, namely difficulties in achieving optimal physical and cognitive development. Stunted children have a lower Intelligence Quotient (IQ) than the average IQ of normal children (Ministry of Health of the Republic of Indonesia, 2018). Stunting is defined as a condition where the child's nutritional status according to TB/U results in a Z Score = &lt;-2 SD, this indicates a short or very short body condition resulting from growth failure. Stunting in children is also a risk factor for death, problems with low motor development, low language skills, and functional imbalance (Anwar, Khomsan, and Mauludyani, 2014). Children who experience stunting as a result of someone not getting the right amount of nutritional intake over a long period of time (chronic). So that,stunting can actually be prevented with adequate nutritional intake, especially in the first 1000 days of life. This study aims to analyze efforts to prevent stunting during the prenatal period. The method used in this research is path analysis, by combining TRA and TPB theories to obtain 3 variables, namely environment, knowledge and behavior. Based on merger theory of behavior change TRA and TPB research can be concluded that the environment social pregnant women, knowledge about efforts to prevent stunting in pregnant women and the behavior of pregnant women regarding preventing stunting are all influential. This research concludes that stunting can be prevented from influencing factors starting from the prenatal period. Because adequate nutrition and the health of pregnant women greatly influence the growth of the fetus in the womb, which if there is a lack of intake can result in stunting.

Do childhood depressive symptoms interfere with intelligence in adulthood?

To investigate the effects of depressive symptoms in childhood on the intellectual development of young adults. Study conducted with a birth cohort of São Luís, Maranhão, Brazil, composed of 339 participants evaluated between 7 and 9 years and between 18 and 19 years. Structural equation modeling (young adult education, sex, race/color) and childhood variables (nutritional status, depressive symptoms, cognitive function, head of household's and mother's education, family income) were used. In addition, head of household's occupation, mother's age, and presence of partner were tested as determinants of adults' intelligence quotient (IQ). Presence of depressive symptoms in childhood triggered a reduction of 0.342 in standard deviation (SD) and -3.83 points in the average IQ of adults (p-value < 0.001). Cognitive function in childhood had a total and direct positive effect (standardized coefficient [SC] = 0.701; p-value < 0.001) on IQ, increasing 7.84 points with each increase in level. A positive indirect effect of child nutritional status (SC = 0.194; p-value = 0.045), head of household's (SC = 0.162; p-value = 0.036), and mother's education was identified, the latter mediated by cognitive function in childhood (SC = 0.215; p-value = 0.012) on the IQ of young people. Presence of depressive symptoms in childhood triggered a long-term negative effect on intelligence, reducing the IQ score in adulthood.

Cognition and education benefits of increased hemoglobin and blood oxygenation in children with sickle cell disease.

Among individuals with sickle cell disease (SCD), decreased hemoglobin is associated with lower oxygen saturation (SpO2) and increased risk of stroke, both of which are associated with lower intelligence quotient (IQ) scores. Thus, increasing hemoglobin and SpO2 in individuals with SCD may increase IQ and educational attainment. A cohort simulation model was built to determine academic performance and educational attainment based on cognitive function (measured by IQ) of a pediatric SCD cohort randomly assigned to treatment and control groups. The model contained two key stages: childhood (<10 years) and adolescence (≥10 years). In stage 1, increased hemoglobin and increased SpO2 (assigned to the treatment group) were determinants of higher IQ, prevention of IQ deterioration over time. Increased hemoglobin was also a determinant of decreased stroke risk. In stage 2, improvement in adolescent IQ as a result of treatment was a determinant of academic performance. In a simulated cohort of 2000 children and adolescents with SCD (52.5% female, 50% treated), stroke incidence was predicted to be 44.4% lower among the treated group than the untreated group (4.5% versus 8.1%, respectively). The average IQ among the treated group was estimated to be 91.1 compared with 82.9 in the untreated group (a 9.9% difference; P<0.001). Finally, high school (≥12 years of education) completion rates were estimated to be 64.7% higher among the treated group: 76.1% of the treated group was projected to complete high school compared with 46.2% of the untreated group. Our model predicts that an average improvement in hemoglobin of 1.1 g/dL (11 g/L) among individuals with SCD may be associated with improved neurocognition and educational outcomes. These improvements may also generate benefits not captured by our model, including improved quality of life, employment, and income.

Intelligence quotient changes over 10years: Diversity of cognitive profiles in first episode of psychosis and healthy controls.

This study aimed to analyse whether intelligence quotient (IQ) improves, declines, or remains stable over 10years among FEP patients and healthy subjects. A group of FEP patients enrolled in a Program of First Episode Psychosis in Spain called PAFIP, and a sample of Healthy Controls (HC) completed the same neuropsychological battery at baseline and approximately 10years later, which included the WAIS vocabulary subtest to estimate premorbid IQ and 10-year IQ. Cluster analysis was performed separately in the patient group and the HC group to determine their profiles of intellectual change. One hundred and thirty-seven FEP patients were grouped into five clusters: "Improved low IQ" (9.49% of patients), "Improved average IQ" (14.6%), "Preserved low IQ" (17.52%), "Preserved average IQ" (43.06%), and "Preserved high IQ" (15.33%). Ninety HC were grouped into three clusters: "Preserved low IQ" (32.22% of the HC), "Preserved average IQ" (44.44%), and "Preserved high IQ" (23.33%). The first two clusters of FEP patients, characterized by a low IQ, earlier age at illness onset, and lower educational attainment, showed a substantial cognitive improvement. The remaining clusters demonstrated cognitive stability. The FEP patients showed intellectual improvement or stability, but no decline post-onset of psychosis. However, their profiles of intellectual change are more heterogeneous than that of HC over 10years. Particularly, there is a subgroup of FEP patients with a significant potential for long-term cognitive enhancement.

Unexpected cause of repeated peritoneal dialysis-related complications: a case study of autism spectrum disorder with normal intelligence quotient in an adolescent

BackgroundAutism spectrum disorder (ASD) is a common communication disorder, with an incidence rate of 3%. In most cases, clinicians can diagnose ASD in a single outpatient visit. However, in the case of ASD patients without intellectual disability, clinicians are sometimes unaware for a prolonged period that a patient has ASD. In such cases, delayed diagnosis can lead to serious complications.Case presentationAn 18-year-old boy had repeated severe complications of peritoneal dialysis. At the age of 9, the patient presented with proteinuria, and 5 years later, he developed end-stage kidney disease. Percutaneous renal biopsy and the clinical symptoms revealed focal segmental glomerulosclerosis with Charcot-Marie-Tooth disease due to a gene mutation in INF2. Peritoneal dialysis was initiated at the age of 14, but led to many related complications, including peritonitis, hypertensive retinopathy and encephalopathy, and acute heart failure. Initially, we were unaware of his developmental characteristics and autism spectrum disorder without intellectual disability, but through lengthy observations by various healthcare professionals, his unique characteristics were noticed. Because the patient often displayed a discrepancy between behavior and speech, we cautiously studied his thoughts and behaviors, and developed a special approach to ensure safe peritoneal dialysis.ConclusionsWhen many peritoneal dialysis-related complications occur in a patient with normal intelligence quotient, autism spectrum disorder should be considered as a possible cause.

Cognitive performance of preschoolers with Congenital Hypothyroidism enrolled in a follow-up program

To evaluate the cognitive performance of preschool children with CH incorporated into a follow- up program. Prospective study of 93 patients with a confirmed diagnosis of CH. Intelligence quotient (IQ) was assessed using the Wechsler Preschool and Primary Intelligence Scale (WPPSI) at 4 and 5 years, and the WISC-R at 6 years of age. Full-Scale IQ (FSIQ), Verbal IQ (VIQ), and Performance IQ (PIQ) scores were analyzed. The study sample was 80 children. The average age at starting hormonal treatment was 42 ± 18 days; treatment started early in 25 patients (24 ± 6 days) and late in 55 patients (50 ± 16 days). The mean initial dose of Levothyroxine was 13.5 ± 1.5µg/kg/day. Children with athyrosis and late initiation of treatment had lower scores on the VIQ (85 ± 14), the PIQ (89 ± 12), and the FSIQ (86 ± 13) scales at 4 years of age, in comparison with patients with early initiation of treatment. These patients scored within the cut-off point for the normal IQ classification (90-109 points). IQ comparison at 6 years of age revealed differences up to 14 points in the PIQ and 11 points in the FSIQ between children with athyrosis and early initiation of treatment, with and without regular attendance to the follow-up program. These results support the importance of early initiation of treatment and the incorporation of children in follow-up programs and early stimulation. The etiology of hypothyroidism and the age at initiation of treatment were the most significant factors that affected cognitive performance.

The incidence and clinical characteristics of fragile X syndrome in China.

Fragile X syndrome (FXS) is a X-linked neurodevelopmental disorder (NDD). This study aims to investigate the incidence of FXS in Chinese children and analyze the comprehensive clinical characteristics of these FXS children. Children diagnosed with idiopathic NDD were recruited between 2016 and 2021 from the department of Child Health Care, Children's Hospital of Fudan University. We combined tetraplet-primed PCR-capillary electrophoresis and whole exome sequencing (WES)/panel or array-based comparative genomic hybridization (array-CGH) to identify the size of the CGG repeats and the mutations or copy number variations (CNVs) in the genome and in FMR1. The clinical features of FXS children were analyzed according to pediatricians' recording, parental questionnaires, the results of examinations and follow-up. The incidence of FXS in Chinese children with idiopathic NDD was 2.4% (42/1753) and in those with FXS, 2.38% had a deletion (1/42). Here, we present the clinical characteristics of 36 children with FXS. Overweight was observed in two boys. The average intelligence quotient (IQ)/development quotient (DQ) of all FXS patients was 48. The average ages of meaningful words and walking alone were 2 years and 10 months and 1 year and 7 months, respectively. The most frequent repetitive behavior was stimulated by hyperarousal to sensory stimulation. On social aspects, social withdrawal, social anxiety, and shyness accounted for 75%, 58%, and 56% of the total number of children, respectively. Approximately 60% of FXS children in this cohort were emotionally labile and prone to temper tantrums. Self-injury and aggression toward others could also be observed, at 19% and 28%, respectively. The most frequent behavioral problem was attention-deficit hyperactivity disorder (ADHD) seen in 64% and the most common facial features were a narrow and elongated face and large or prominent ears in 92% of patients. Screening of FMR1 full mutation provides the possibility for patients' further medical supports and the clinical features of FXS children obtained in this study will increase the understanding and diagnosis of FXS.

Cesarean section and association with intelligence quotient in adolescents: contribution from the RPS Cohort Consortium (Ribeirão Preto, Pelotas and São Luís), Brazil

This study aimed to evaluate the association between cesarean section and intelligence quotient (IQ) in adolescents from the Municipality of São Luís, Maranhão State, Brazil. This is a longitudinal study using data from the São Luís birth cohort, started in 1997. The approach occurred in the third phase of the cohort, in 2016, with adolescents aged 18 and 19 years. The exposure variable was mode of delivery and the outcome variable was IQ, measured by applying the third version of the Wechsler Adult Intelligence Scale (WAIS-III). In the data analysis, the average IQ was verified according to the covariates and multivariate linear regression was used. To control confounding factors, a theoretical model was elaborated using the directed acyclic graph. The confounding variables were socioeconomic variables at birth and perinatal variables. Their average IQ was 101.4. In the crude analysis, the IQ of adolescents born by cesarean section was 5.8 points higher than those born by vaginal delivery (95%CI: 3.8; 7.7, p ≤ 0.001), with statistical significance. In the multivariate analysis, the value decreased to 1.9 (95%CI: -0.5; 3.6, p = 0.141), without statistical significance. The result of the study showed that cesarean section is not associated with the IQ of adolescents in this sample and reflects that the differences can be explained by other factors, such as socioeconomic and perinatal aspects.