Genomes and Genes
Summary: These are a group of conditions with onset in the developmental period. The disorders typically manifest early in development, often before the child enters grade school, and are characterized by developmental deficits that produce impairments of personal, social, academic, or occupational functioning. (From DSM-V).
- ..Toxic chemicals increase the risk of cognitive, behavioral, and neurodevelopmental disorders throughout the life span...
- Jenks C, Hernandez A, Stavinoha P, Morris M, Tian F, Liu H, et al. Elevated cranial ultrasound resistive indices are associated with improved neurodevelopmental outcomes one year after pediatric cardiac surgery: A single center pilot study. Heart Lung. 2017;46:251-257 pubmed publisher..Obtaining an ultrasound with resistive indices of the major cerebral vessels prior to and after surgery may yield information that is predictive of neurodevelopmental outcomes. ..
- Marschik P, Pokorny F, Peharz R, Zhang D, O Muircheartaigh J, Roeyers H, et al. A Novel Way to Measure and Predict Development: A Heuristic Approach to Facilitate the Early Detection of Neurodevelopmental Disorders. Curr Neurol Neurosci Rep. 2017;17:43 pubmed publisher..However, there is a clear blind spot in early postnatal development when dealing with neurodevelopmental disorders, especially those that manifest themselves clinically only in late infancy or even in childhood...
- Kosmicki J, Samocha K, Howrigan D, Sanders S, Slowikowski K, Lek M, et al. Refining the role of de novo protein-truncating variants in neurodevelopmental disorders by using population reference samples. Nat Genet. 2017;49:504-510 pubmed publisherRecent research has uncovered an important role for de novo variation in neurodevelopmental disorders. Using aggregated data from 9,246 families with autism spectrum disorder, intellectual disability, or developmental delay, we found that ..
- Vinet Ã, Bernatsky S. Outcomes in Children Born to Women with Rheumatic Diseases. Rheum Dis Clin North Am. 2017;43:263-273 pubmed publisher..We present a review of the current evidence regarding the risk of adverse health outcomes in SLE and RA offspring, and potential mechanisms involved in their pathogenesis. ..
- Nelson S, Haig C, McConnachie A, Sattar N, Ring S, Smith G, et al. Maternal thyroid function and child educational attainment: prospective cohort study. BMJ. 2018;360:k452 pubmed publisher..Maternal thyroid dysfunction in early pregnancy does not have a clinically important association with impaired child performance at school or educational achievement. ..
- Nakajima S, Saijo Y, Miyashita C, Ikeno T, Sasaki S, Kajiwara J, et al. Sex-specific differences in effect of prenatal exposure to dioxin-like compounds on neurodevelopment in Japanese children: Sapporo cohort study. Environ Res. 2017;159:222-231 pubmed publisher..These findings indicate that adverse neurodevelopmental effects of prenatal background-level exposure to DLCs may be stronger in male children. ..
- Jiang N, Tofail F, Ma J, Haque R, Kirkpatrick B, Nelson C, et al. Early Life Inflammation and Neurodevelopmental Outcome in Bangladeshi Infants Growing Up in Adversity. Am J Trop Med Hyg. 2017;97:974-979 pubmed publisher..CRP, sCD14, IL-1?, and IL-6 were associated with lower neurodevelopmental outcomes. Our findings implicate a role of inflammation in the neurodevelopment of children growing up in adversity. ..
- Lelieveld S, Wiel L, Venselaar H, Pfundt R, Vriend G, Veltman J, et al. Spatial Clustering of de Novo Missense Mutations Identifies Candidate Neurodevelopmental Disorder-Associated Genes. Am J Hum Genet. 2017;101:478-484 pubmed publisher..15Â genes with clustering mutations, including 12 genes for which mutations are known to cause neurodevelopmental disorders. For 11 out of these 12, NHI mutation mechanisms have been reported...
- Lechner B, Vohr B. Neurodevelopmental Outcomes of Preterm Infants Fed Human Milk: A Systematic Review. Clin Perinatol. 2017;44:69-83 pubmed publisher..The components of breast milk thought to mediate improved cognitive outcomes include long-chain polyunsaturated fatty acids and human milk oligosaccharides. ..
- Skranes J, Løhaugen G, Schumacher E, Osredkar D, Server A, Cowan F, et al. Amplitude-Integrated Electroencephalography Improves the Identification of Infants with Encephalopathy for Therapeutic Hypothermia and Predicts Neurodevelopmental Outcomes at 2 Years of Age. J Pediatr. 2017;187:34-42 pubmed publisher..Selection of infants with encephalopathy for therapeutic hypothermia after perinatal asphyxia may be improved by including only infants with an early moderate or severely depressed background aEEG trace. ..
- Coci E, Auhuber A, Langenbach A, Mrasek K, Riedel J, Leenen A, et al. Novel Unbalanced Translocations Affecting the Long Arms of Chromosomes 10 and 22 Cause Complex Syndromes with Very Severe Neurodevelopmental Delay, Speech Impairment, Autistic Behavior, and Epilepsy. Cytogenet Genome Res. 2017;151:171-178 pubmed publisher
- Stamberger H, Weckhuysen S, De Jonghe P. STXBP1 as a therapeutic target for epileptic encephalopathy. Expert Opin Ther Targets. 2017;21:1027-1036 pubmed publisher..Mutations in STXBP1 have been associated with a series of (epileptic) neurodevelopmental disorders collectively referred to as STXBP1-encephalopathy (STXBP1-E)...
- Emond A, Sheahan C, Mytton J, Hollen L. Developmental and behavioural associations of burns and scalds in children: a prospective population-based study. Arch Dis Child. 2017;102:428-483 pubmed publisher..Child factors associated with increased risk of burns were male gender in infancy and female gender at school age, advanced gross motor development, coordination difficulties, hyperactivity and problems with emotional regulation. ..
- Rodriguez Barranco M, Tobias A, Redondo D, Molina Portillo E, Sanchez M. Standardizing effect size from linear regression models with log-transformed variables for meta-analysis. BMC Med Res Methodol. 2017;17:44 pubmed publisher..Homogenizing the results from different studies beforehand allows them to be combined in a meta-analysis, independently of whether the transformations had been performed on the dependent and/or independent variables. ..
- Berglund S, Torres Espinola F, García Valdés L, Segura M, Martínez Zaldívar C, Padilla C, et al. The impacts of maternal iron deficiency and being overweight during pregnancy on neurodevelopment of the offspring. Br J Nutr. 2017;118:533-540 pubmed publisher..These results should be taken into account when considering Fe supplementation for pregnant women...
- Myers C, STONG N, Mountier E, Helbig K, Freytag S, Sullivan J, et al. De Novo Mutations in PPP3CA Cause Severe Neurodevelopmental Disease with Seizures. Am J Hum Genet. 2017;101:516-524 pubmed publisher..Based on these findings, we securely implicate PPP3CA in early-onset refractory epilepsy and further support the emerging role for synaptic dysregulation in epilepsy. ..
- Galler J, Koethe J, Yolken R. Neurodevelopment: The Impact of Nutrition and Inflammation During Adolescence in Low-Resource Settings. Pediatrics. 2017;139:S72-S84 pubmed publisher..This overview should help to inform the development of new strategies to improve the neurodevelopmental outcomes of high risk adolescent populations. ..
- Wang H, Salter C, Refai O, Hardy H, Barwick K, Akpulat U, et al. Choline transporter mutations in severe congenital myasthenic syndrome disrupt transporter localization. Brain. 2017;140:2838-2850 pubmed publisher..These findings underscore the essential role played by the choline transporter in sustaining acetylcholine neurotransmission at both central and neuromuscular synapses, with important implications for treatment and drug selection. ..
- Salter M, Stevens B. Microglia emerge as central players in brain disease. Nat Med. 2017;23:1018-1027 pubmed publisher..implicating this enigmatic type of nervous system cell as a key player in conditions ranging from neurodevelopmental disorders such as autism to neurodegenerative disorders such as Alzheimer's disease and chronic pain...
- John C, Black M, Nelson C. Neurodevelopment: The Impact of Nutrition and Inflammation During Early to Middle Childhood in Low-Resource Settings. Pediatrics. 2017;139:S59-S71 pubmed publisher..Research in these key areas will be critical to the development of interventions to optimize the neurodevelopmental potential of children worldwide in the early to middle childhood years. ..
- Shankaran S, Laptook A, Pappas A, McDonald S, Das A, Tyson J, et al. Effect of Depth and Duration of Cooling on Death or Disability at Age 18 Months Among Neonates With Hypoxic-Ischemic Encephalopathy: A Randomized Clinical Trial. JAMA. 2017;318:57-67 pubmed publisher..However, the trial may be underpowered, and an interaction was found between longer and deeper cooling. These results support the current regimen of cooling for 72 hours at 33.5°C. clinicaltrials.gov Identifier: NCT01192776. ..
- Kulkarni M, Huddlestone L, Taylor A, Sayal K, Ratschen E. A cross-sectional survey of mental health clinicians' knowledge, attitudes, and practice relating to tobacco dependence among young people with mental disorders. BMC Health Serv Res. 2014;14:618 pubmed publisher..There is a need to improve clinicians' knowledge, capacity and confidence in effectively identifying, motivating, supporting and treating young smokers in the context of treatment for mental disorders. ..
- Neniskyte U, Gross C. Errant gardeners: glial-cell-dependent synaptic pruning and neurodevelopmental disorders. Nat Rev Neurosci. 2017;18:658-670 pubmed publisher..anatomical studies suggest that insufficient or excessive synaptic pruning may underlie several neurodevelopmental disorders, including autism, schizophrenia and epilepsy...
- Laugeray A, Herzine A, Perche O, Richard O, Montécot Dubourg C, Menuet A, et al. In utero and lactational exposure to low-doses of the pyrethroid insecticide cypermethrin leads to neurodevelopmental defects in male mice-An ethological and transcriptomic study. PLoS ONE. 2017;12:e0184475 pubmed publisher
- Iyer J, Girirajan S. Gene discovery and functional assessment of rare copy-number variants in neurodevelopmental disorders. Brief Funct Genomics. 2015;14:315-28 pubmed publisherRare copy-number variants (CNVs) are a significant cause of neurodevelopmental disorders. The sequence architecture of the human genome predisposes certain individuals to deletions and duplications within specific genomic regions...
- McKinlay C, Alsweiler J, Anstice N, Burakevych N, Chakraborty A, Chase J, et al. Association of Neonatal Glycemia With Neurodevelopmental Outcomes at 4.5 Years. JAMA Pediatr. 2017;171:972-983 pubmed publisher..Hypoglycemia is common during neonatal transition and may cause permanent neurological impairment, but optimal intervention thresholds are unknown...
- Singh T, Walters J, Johnstone M, Curtis D, Suvisaari J, Torniainen M, et al. The contribution of rare variants to risk of schizophrenia in individuals with and without intellectual disability. Nat Genet. 2017;49:1167-1173 pubmed publisher..who also have intellectual disability, this burden is concentrated in risk genes associated with neurodevelopmental disorders. After excluding known risk genes for neurodevelopmental disorders, a significant rare variant burden ..
- Lesch K. Maturing insights into the genetic architecture of neurodevelopmental disorders - from common and rare variant interplay to precision psychiatry. J Child Psychol Psychiatry. 2016;57:659-61 pubmed publisher..There is a decisive move to think of neurodevelopmental disorders as a spectrum rather than discrete categorical entities...