Neurodevelopmental outcomes in individuals with VACTERL association. A population-based cohort study (original) (raw)
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Acta Paediatrica, 2018
Aim: Knowledge on the neurodevelopmental and physical function in children with vertebral defects, anorectal malformations, cardiac defects, tracheo-oesophageal fistula, renal and limb malformations (VACTERL) is scarce. We evaluated Swedish preschool children with VACTERL and identified whether they would need extra support in school. Methods: From 2015 to 2017, we recruited children aged 5-7 with VACTERL association from the paediatric surgical centre at the University Children's Hospital at Uppsala. Neurodevelopmental function was assessed by age-appropriate intelligence and visual and auditory attention tests, and the children's behaviour and attention were observed by an experienced psychologist. Physical function was evaluated through parental interviews and examinations. Data on patient characteristics, including any surgery and anaesthesia, were extracted from medical records. Results: Of the 13 eligible families, 10 agreed to participate. Intelligence was within the normal range for all children, but attention difficulties were found in eight of the children, requiring adjustments at school, and two of these were later diagnosed with attention deficit hyperactivity disorder. All children had physical dysfunctions that affected their daily nutrition, bowel or bladder functions. Conclusion: Attention difficulties and physical dysfunction were common in Swedish preschool children aged 5-7 with VACTERL and they would need support and adjustments when they started school.
Quality of Life Research, 2019
PurposeVACTERL association is a rare and complex condition of congenital malformations, often requiring repeated surgery and entailing various physical sequelae. Due to scarcity of knowledge, the study aim was to investigate self-reported health-related quality of life (HRQoL), anxiety, depression and self-concept in children and adolescents with VACTERL association and self-reported anxiety and depression in their parents.MethodsPatients aged 8–17 years with VACTERL association and their parents were recruited from three of four Swedish paediatric surgical centres during 2015–2019. The well-established validated questionnaires DISABKIDS, Beck Youth Inventories, Beck Anxiety Inventory and Beck Depression Inventory were sent to the families. Data were analysed using descriptives,ttests and multivariable analysis. Results were compared with norm groups and reference samples.ResultsThe questionnaires were returned by 40 patients, 38 mothers and 33 fathers. The mean HRQoL wasM = 80.4, c...
Functional independence of Taiwanese children with VACTERL association
American Journal of Medical Genetics Part A, 2012
VACTERL association is a non-random association of birth defects, which may include anomalies of the vertebral column, limbs, kidneys, and heart; anal atresia; tracheoesophageal fistula; and esophageal atresia. The presence of two or more of the defects establishes the diagnosis. The aim of our study is to describe the functional independence of children with VACTERL association and compare the results to unaffected children. These results will enable clinicians to provide more realistic prognostic information to parents and families. We used the WeeFIM questionnaire to assess the functional skills of 23 patients who had been diagnosed with VACTERL association at Mackay Memorial Hospital, Taipei, Taiwan, from June 1994 to June 2009. The total WeeFIM scores and sub-scores for three domains (self-care, mobility, and cognition) correlated significantly with age (P < 0.01). The scores were generally within the same range as those of unaffected Chinese children, although our subjects had slightly inferior scores on six items, including bowel, chair transfer, stairs, expression, social interaction, and problem solving. In conclusion, the daily functional skills of Taiwanese children with VACTERL association were similar to those of unaffected children.
European child & adolescent psychiatry, 2017
In this retrospective nationwide population-based case-control study, we investigated the impact of congenital heart disease (CHD) on the development of attention-deficit/hyperactivity disorder (ADHD) and autism spectrum disorder (ASD), which remains unclear. Children aged <18 years that were diagnosed with CHD (n = 3552) between January 1, 1997 and December 31, 2009 were identified from the National Health Insurance Research Database in Taiwan. Non-CHD controls (n = 14,208) matched for age and sex (1:4) were selected from the same dataset. All subjects were observed until December 31, 2011 or their death. Comorbid perinatal conditions and early developmental disorders (EDD) that were diagnosed before ADHD and ASD diagnosis were also analyzed. The incidence rates of perinatal comorbidities, EDD, ADHD, and ASD were higher in the CHD group than in the control group. Multivariate Cox regression analysis revealed that the CHD group had an increased risk of developing ADHD (adjusted h...
PLOS ONE, 2020
Aim Several studies in animal models have found that exposure to anesthetics in early life can cause cognitive dysfunction. Human studies show conflicting results and studies of cognitive function after anesthesia and neonatal surgery are scarce. The aim of this study was to investigate whether exposure to anesthesia and abdominal surgery during infancy was associated with cognitive dysfunction from the perspective of educational level, disposable income and attention deficit hyperactivity disorders (ADHD) in adolescent and adult individuals. Methods A cohort study with patients born 1976 to 2002 that underwent abdominal surgery during infancy at a pediatric surgical center were matched by age, sex, and gestational age to ten randomly selected individuals from the Swedish Medical Birth Register. Individuals with chromosomal aberrations were excluded. Data on highest level of education and annual disposable income were attained from Statistics Sweden and the diagnosis of ADHD were retrieved from the Swedish National Patient Register. Results 485 individuals and 4835 controls were included. Median gestational age was 38 weeks (24-44) and median age at surgery was seven days (0-365). Three hundred sixty-six individuals (70.0%) underwent surgery during the neonatal period (< 44 gestational weeks). Median operating time was 80 minutes (10-430). The mean age at follow-up was 28 years. Fisher's exact test for highest level of education for the exposed and unexposed groups were respectively: university 35% and 33%, upper secondary 44% and 47%, compulsory 21% and 20% (p = 0.6718). The median disposable income was 177.7 versus 180.9 TSEK respectively (p = 0.7532). Exposed individuals had a prevalence of ADHD of 5.2% and unexposed 4.4% (p = 0.4191).
Risks Associated With Undiagnosed ADHD and/or Autism: A Mixed-Method Systematic Review
JAD, 2023
Background: The two most prevalent neurodevelopmental disorders-Attention Deficit Hyperactivity Disorder (ADHD) and Autism (ASD)-(ASD/ADHD) strongly impact individuals' functions. This is worsened when individuals are undiagnosed and risks such as increased imprisonments, depression or drug misuse are often observed. This systematic review synthesizes the risks associated with late/undiagnosed ASD/ADHD. Methods: Four databases were searched (Medline, Scopus, PsychInfor, and Embase). Published studies exploring the impact of undiagnosed ASD/ADHD were included. Exclusion criteria included, lack of diagnosis status, studies not solely on ASD or ADHD, gray literature and studies not in English. The findings were summarize through a narrative synthesis. Results: Seventeen studies were identified, 14 on ADHD and three on ASD. The narrative synthesis identified three main themes: (1) Health, (2) Offending behavior, and (3) Day-today impact. The risks highlighted a significant impact on mental wellbeing and social interactions, higher risks of substance abuse, accidents and offending behavior as well as lower levels of income and education. Discussion: The findings suggest that undiagnosed ASD/ADHD is linked to many risks and negative outcomes affecting individuals, their families, and the wider society. The restricted number of studies on ASD are a limitation to the generalization of these findings Implications for research and practice are discussed, highlighting the importance of screening and acknowledging the possibility of ASD/ADHD in many settings such as psychiatric and forensic.
Diseases of the Esophagus
Summary Knowledge of neurodevelopmental disorders such as attention deficit/hyperactivity disorder (ADHD), autism spectrum disorders (ASD) and intellectual disability (ID) in patients with esophageal atresia (EA) is scarce. The aims of this study were to investigate the prevalence and risk of ADHD, ASD and ID in individuals with EA. Data were obtained from four longitudinal population-based registries in Sweden and analyzed using Cox proportional hazards regression. Patients with EA born in Sweden in 1973–2018 were included together with five controls for each individual with the exposure matched on sex, gestational age at birth, birth year and birth county. Individuals with chromosomal aberrations and syndromes were excluded. In total, 735 individuals with EA and 3675 controls were included. Median age at time of the study was 20 years (3–48). ASD was found in 24 (3.9%), ADHD in 34 (5.5%) and ID in 28 (4.6%) individuals with EA. Patients with EA had a 1.66 times higher risk of ASD ...
2015
Aim-The first aim of this study was to evaluate the association between different subgroups of autism spectrum disorders (ASDs) (childhood autism, Asperger syndrome, and pervasive developmental disorder/pervasive developmental disorder-not otherwise specified [PDD/PDD-NOS]) and congenital anomalies. Second, we assessed the association among intellectually disabled children with ASDs in the subgroups of childhood autism and PDD/PDD-NOS. Method-Nationwide population-based register data for children with a diagnosis of ASD (n=4449; 3548 males, 901 females) were collected during years 1987-2000 from the Finnish Hospital Discharge Register. Data on congenital anomalies were derived from the National Register of Congenital Malformations. Conditional logistic regression models were used as a statistical method. The association between ASD subgroups and congenital anomalies was stratified by the presence or absence of intellectual disability. Results-Congenital anomalies occurred more frequently in all subgroups of ASD than in comparison participants (adjusted odds ratio [OR] for major congenital anomalies 1.8, 95% confidence interval [CI] 1.5-2.2, p<0.001). The association between congenital anomalies and childhood autism (OR 2.4, 95% CI 1.6-3.6, p<0.001) and between congenital anomalies and PDD/ PDD-NOS (OR 3.7, 95% CI 2.4-5.7, p<0.001) among children with an intellectual disability was strong but remained significant also without intellectual disability (childhood autism: OR 1.7, 95% CI 1.3-2.3, p<0.
Istanbul Medical Journal, 2019
Amaç: Nörogelişimsel bozuklukların patogenezinde doğum öncesi ve erken yaşam dönemi maruziyetlerini içeren epigenetik değişiklikler, kalıtsal genler kadar ilgi çekici olmaya başlamaktadır. Bu çalışmada puberte öncesi dönemde dikkat eksikliği hiperaktivite bozukluğu (DEHB), otizm spektrum bozukluğu (OSB) ve özgül öğrenme bozukluğu (ÖÖB) tanılı çocuklar için olası çevresel ve gelişimsel risk faktörlerinin araştırılması amaçlanmıştır. Yöntemler: Çalışmaya 7-12 yaş aralığında 98 çocuk (24 DEHB, 24 ÖÖB, 26 OSB, 24 kontrol) alınmıştır. Tanısal değerlendirmede Amerikan Psikiyatri Birliği Ruhsal Bozuklukların Tanısal ve Sayımsal El Kitabına dayalı görüşme, Okul Çağı Çocukları için Duygulanım Bozuklukları ve Şizofreni Görüşme Çizelgesi-şimdi versiyonu kullanılmıştır. Klinik değerlendirmede ebeveynler tarafından sosyo-demografik veri formu doldurulmuştur ve bilişsel değerlendirmede Wechsler Çocuklar İçin Zeka ölçeği kullanılmıştır. Bulgular: Çalışmamızda düşük ebeveyn eğitim düzeyi, ebeveyn işsizliği, düşük gelirli aile ve birinci derece akrabalarda psikiyatrik hastalık öyküsü ÖÖB riski ile, prematürite öyküsü ve erken dönem kendini düzenleme güçlükleri OSB riski ile, allerji öyküsü DEHB riski ile ilişkili bulunmuştur. Sonuç: Bu çalışmada nörogelişimsel bozukluklarda olası rol oynayan pek çok farklı risk faktörü bulunması ileri epigenetik çalışmalara ihtiyaç olduğunu göstermektedir. Anahtar Kelimeler: Öğrenme bozukluğu, otizm spektrum bozukluğu, dikkat eksikliği hiperaktivite bozukluğu, gelişimsel özellikler, risk faktörleri Introduction: Epigenetic changes in the pathogenesis of neurodevelopmental disorders, including prenatal and early life exposures, are becoming as appealing as hereditary genes. This study aimed to investigate possible pre-pubertal environmental and developmental risk factors for children with Attention Deficit Hyperactivity Disorder (ADHD), Autism Spectrum Disorder (ASD), and Specific Learning Disorder (SLD). Methods: The study included 98 children (24 ADHD, 24 SLD, 26 ASD, 20 controls) aged 7-12 years. The diagnostic evaluation was based on the American Psychiatric Association Diagnostic and Statistical Manual of Mental Disorders and Schedule for Affective Disorders and Schizophrenia for School-age Childrenpresent version. Parents completed socio-demographic data form for clinical evaluation, and The Wechsler Children's Intelligence scale was used to assess cognitive skills. Results: In our study, low parental education level, parental unemployment, low-income, and history of psychiatric disorders in first-degree relatives were associated with SLD risk, prematurity, and early self-regulation difficulties were associated with ASD risk, and history of allergy was associated with ADHD risk. Conclusion: In this study, the presence of many different risk factors that play a possible role in neurodevelopmental disorders suggests that further epigenetic studies are needed.