Association between attention-deficit/hyperactivity symptoms and sleep in preschoolers.

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.

New mitochondrial DNA mutations in tRNA associated with three severe encephalopamyopathic phenotypes: neonatal, infantile, and childhood onset.

The reported cases showed clinical, biochemical, histopathological, and molecular features lending support to the hypothesis of a pathogenic effect of the detected mutations. Case 1 was a neonatal presentation who showed multiple mitochondrial respiratory chain enzyme defects in muscle associated with a new homoplasmic m.5514A > G transition in the tRNA(Trp) gene. Case 2 was a late infantile presentation who also showed mitochondrial respiratory chain enzyme deficiencies in muscle together with a new m.1643A > G tRNA(Val) mutation in homoplasmy. Case 3 showed a MERRF phenotype presented in childhood associated with the once previously reported m.15923A > G mutation in heteroplasmy in all the tissues studied.

Behavioral and emotional outcomes at preschool age in children born very preterm: The role of breast milk feeding practices.

BACKGROUND: Breast milk feeding (BMF) improved neurodevelopment in children born very preterm (VPT, <32 weeks of gestation), but knowledge about its effect on other mental health outcomes remains limited. OBJECTIVE: To estimate the association of BMF practices with behavioral and emotional problems at preschool age in children born VPT. METHODS: We studied 263 children born VPT during 2011-12 and enrolled in the Portuguese EPICE cohort. At the age of 3, information on BMF initiation and duration was collected and behavioral and emotional problems were assessed using the parents' completed Child Behavior Checklist 1.5-5 years (CBCL/1½-5). Children were categorized for all CBCL/1½-5 sub-scales and for Diagnostic and Statistical Manual of Mental Disorders (DSM5)-oriented scales. Risk ratios were estimated to assess the association of BMF with subclinical/clinical problems, fitting a Poisson regression. RESULTS: Behavioral or emotional subclinical/clinical problems were found in almost 20% of children (11.8% in the clinical range). BMF was consistently associated with lower adverse behavioral and emotional outcomes, particularly risks of externalizing problems, somatic complaints, aggressive behavior, as well as autism spectrum and attention deficit/hyperactivity symptoms, although the magnitude of the unadjusted risks was attenuated by adjustment for relevant confounders and wider confidence intervals included the null. CONCLUSION: Lower exposure to BMF seemed to increase the risk of adverse behavioral and emotional outcomes at preschool age in children born VPT. These results raise questions about explanatory pathways and strengthen evidence underpinning BMF promotion for VPT children.

Refining the Clinical Spectrum of the 17p13.3 Microduplication Syndrome: Case-Report of a Familial Small Microduplication.

The chromosomal region 17p13.3 contains extensive repetitive sequences and is a well-recognized region of genomic instability. The 17p13.3 microduplication syndrome has been associated with a clinical spectrum of moderately non-specific phenotypes, including global developmental delay/intellectual disability, behavioral disorders, autism spectrum disorder and variable dysmorphic features. Depending on the genes involved in the microduplication, it can be categorized in two subtypes with different phenotypes. Here, we report a case of a 7-year-old boy with global developmental delay, speech impairment, hypotonia, behavioral conditions (ADHD and ODD), non-specific dysmorphic features and overgrowth. Genetic testing revealed a small 17p13.3 chromosomal duplication, which included the BHLHA9, CRK and YWHAE genes. Additionally, we observed that this was maternally inherited, and that the mother presented with a milder phenotype including mild learning disabilities, speech impairment and non-specific dysmorphic features, which did not significantly affect her. In conclusion, we present a clinical case of a 17p13.3 duplication that further delineates the clinical spectrum of this syndrome, including its intrafamilial/intergenerational variability.