ABSTRACT
Introducción: Los problemas de sueño son frecuentes en niños con trastorno por déficit de atención/hiperactividad (TDAH). Algunos autores han tratado de caracterizar los hábitos de sueño pediátricos en Portugal, pero ninguno se ha centrado en los niños en edad preescolar ni ha intentado correlacionarlos con el TDAH. El objetivo fue evaluar la prevalencia de los síntomas del TDAH en niños en edad preescolar y estudiar su asociación con los hábitos de sueño. Material y métodos: Estudio transversal mediante la administración de un cuestionario a una muestra aleatoria de cuidadores de niños matriculados en guarderías en Oporto. Se recogieron datos de características sociodemográficas, consumo de televisión y actividades al aire libre. Los síntomas del TDAH y los hábitos de sueño fueron evaluados mediante las versiones portuguesas del Conners Parents Rating Scale-Revised y el Children's Sleep Habits Questionnaire (CSHQ-PT), respectivamente. Resultados: El estudio incluyó 381 preescolares (50,90% varones). Se encontraron niveles altos de síntomas de TDAH en el 13,10%, con una prevalencia mayor en las niñas (14,40% vs. 11,85%; p=0,276). El 45,70% tenían una puntuación total en el CSQH-PT superior a 48, que es el punto de corte establecido para el cribado de los trastornos del sueño en la población portuguesa. Se encontró una asociación significativa entre niveles altos de síntomas de TDAH y un nivel educativo materno más bajo (p<0,001), una menor duración del sueño (p=0,049) y mayores puntuaciones en las subescalas de parasomnias (p=0,019) y de trastornos respiratorios del sueño (p=0,002). (AU)
Introduction: Sleep problems are frequent in children with attention-deficit/hyperactivity disorder (ADHD). Some authors have tried to characterize paediatric sleep habits in Portugal, but none has focused on preschool-age children nor attempted to establish their association with ADHD. We aimed to assess the prevalence of ADHD symptoms in preschool-age children and to study their association with sleep habits. Material and methods: We conducted a cross-sectional study. We distributed questionnaires to a random sample of caregivers of children enrolled in early childhood education centres in Porto. We collected data on sociodemographic characteristics, television watching and outdoor activities. We assessed ADHD symptoms and sleep habits with the Portuguese versions of the Conners Parents Rating Scale, Revised and the Children's Sleep Habits Questionnaire (CSHQ-PT), respectively. Results: The study included 381 preschoolers (50.90% male). We found high scores for ADHD symptoms in 13.10%, with a higher prevalence in girls (14.40% vs. 11.85%; P=.276). In the CSHQ-PT, 45.70% of participants had a mean total score greater than 48, which is the cut-off point applied in the screening of sleep disturbances in the Portuguese population. There was a significant association between high scores for ADHD symptoms and a lower maternal education level (P<.001), a shorter sleep duration (P=.049), and higher scores on parasomnias (P=.019) and sleep disordered breathing (P=.002) in CSHQ-PT subscales. (AU)
Subject(s)
Humans , Male , Female , Child, Preschool , Child , Attention Deficit Disorder with Hyperactivity , Sleep Wake Disorders , Portugal , Cross-Sectional Studies , Surveys and Questionnaires , TelevisionABSTRACT
INTRODUCTION: Sleep problems are frequent in children with attention-deficit/hyperactivity disorder (ADHD). Some authors have tried to characterize paediatric sleep habits in Portugal, but none has focused on preschool-age children nor attempted to establish their association with ADHD. We aimed to assess the prevalence of ADHD symptoms in preschool-age children and to study their association with sleep habits. MATERIAL AND METHODS: We conducted a cross-sectional study. We distributed questionnaires to a random sample of caregivers of children enrolled in early childhood education centres in Porto. We collected data on sociodemographic characteristics, television watching and outdoor activities. We assessed ADHD symptoms and sleep habits with the Portuguese versions of the Conners' Parents Rating Scale, Revised and the Children's Sleep Habits Questionnaire (CSHQ-PT), respectively. RESULTS: The study included 381 preschoolers (50.90% male). We found high scores for ADHD symptoms in 13.10%, with a higher prevalence in girls (14.40% vs. 11.85%; P = 0.276). In the CSHQ-PT, 45.70% of participants had a mean total score greater than 48, which is the cut-off point applied in the screening of sleep disturbances in the Portuguese population. There was a significant association between high scores for ADHD symptoms and a lower maternal education level (P < 0.001), a shorter sleep duration (P = 0.049), and higher scores on parasomnias (P = 0.019) and sleep disordered breathing (P = 0.002) in CSHQ-PT subscales. CONCLUSIONS: ADHD and sleep disorders are common in preschoolers, in Porto, and this study suggests some clinical correlations between them. Since these interactions are complex and far from being elucidated, further studies are paramount to provide guidance for prevention and managing strategies in younger children at risk for ADHD.
Subject(s)
Attention Deficit Disorder with Hyperactivity , Sleep Apnea Syndromes , Sleep Wake Disorders , Female , Humans , Child , Male , Child, Preschool , Attention Deficit Disorder with Hyperactivity/complications , Cross-Sectional Studies , Sleep , Sleep Wake Disorders/epidemiology , Sleep Wake Disorders/diagnosisABSTRACT
LAY ABSTRACT: Motor stereotypies are one of the most frequent features in children with a diagnosis of autism spectrum disorder. They may disrupt children's functioning and development and be a potential source of stress for families. Several factors, including sex, age, cognitive ability, and severity of autism spectrum disorder, may influence the presence and intensity of stereotypies. The present study aimed to identify the prevalence of motor stereotypies in a group of children with autism spectrum disorder. In addition, it sought to investigate whether sex, age, cognitive ability, verbal language, neurological comorbidities, and severity of autism spectrum disorder were associated with an increased probability and higher number, duration, and variability of stereotypies. A total of 134 participants aged 2.3-17.6 years underwent a clinical protocol with standardized video-recorded sessions. Stereotypies were identified and classified by two independent evaluators. The prevalence of stereotypies was 56.7%, and a total of 1198 motor stereotypies were captured. Children who were younger, nonverbal, and had higher severity of autism spectrum disorder had an increased probability of presenting stereotypies. Being nonverbal or having higher severity of autism spectrum disorder was also associated with presenting a higher number of stereotypies. Children with developmental delay, intellectual disability, or epilepsy displayed longer stereotypies, and children with developmental delay or intellectual disability additionally presented more diverse stereotypies. As part of the study, the authors present a clinical classification model, a glossary, and video samples of motor stereotypies. The findings of this study suggest that children who are younger, nonverbal, have lower cognitive ability, and have higher severity of autism spectrum disorder may have a higher burden of stereotypies. Earlier intervention and monitoring of these children have the potential to improve their long-term outcomes.
Subject(s)
Autism Spectrum Disorder , Intellectual Disability , Stereotypic Movement Disorder , Child , Humans , Autism Spectrum Disorder/complications , Autism Spectrum Disorder/epidemiology , Intellectual Disability/complications , Stereotyped Behavior , Stereotypic Movement Disorder/epidemiology , ComorbidityABSTRACT
We describe an infant female with a syndromic neurodevelopmental clinical phenotype and increased chromosome instability as cellular phenotype. Genotype characterization revealed heterozygous variants in genes directly or indirectly linked to DNA repair: a de novo X-linked HDAC8 pathogenic variant, a paternally inherited FANCG pathogenic variant and a maternally inherited BRCA2 variant of uncertain significance. The full spectrum of the phenotype cannot be explained by any of the heterozygous variants on their own; thus, a synergic contribution is proposed. Complementation studies showed that the FANCG gene from the Fanconi Anaemia/BRCA (FA/BRCA) DNA repair pathway was impaired, indicating that the variant in FANCG contributes to the cellular phenotype. The patient's chromosome instability represents the first report where heterozygous variant(s) in the FA/BRCA pathway are implicated in the cellular phenotype. We propose that a multigenic contribution of heterozygous variants in HDAC8 and the FA/BRCA pathway might have a role in the phenotype of this neurodevelopmental disorder. The importance of these findings may have repercussion in the clinical management of other cases with a similar synergic contribution of heterozygous variants, allowing the establishment of new genotype-phenotype correlations and motivating the biochemical study of the underlying mechanisms.
