neurodevelopmental disorders


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).

Top Publications

  1. Serres S, Chen C. Utilizing trauma admissions as an opportunity to identify developmental and behavioral concerns. Am J Surg. 2017;214:661-665 pubmed publisher
    ..Pediatric trauma admissions provide an important opportunity to screen for behavioral and developmental concerns in a population that is at risk for these concerns and that could greatly benefit from having problems identified. ..
  2. Mebius M, Kooi E, Bilardo C, Bos A. Brain Injury and Neurodevelopmental Outcome in Congenital Heart Disease: A Systematic Review. Pediatrics. 2017;140: pubmed publisher
    ..Increased awareness of the vulnerability of the young developing brain of an infant with CHD among caregivers is essential. ..
  3. Anderson P, Treyvaud K, Neil J, Cheong J, Hunt R, Thompson D, et al. Associations of Newborn Brain Magnetic Resonance Imaging with Long-Term Neurodevelopmental Impairments in Very Preterm Children. J Pediatr. 2017;187:58-65.e1 pubmed publisher
    ..1 points), and motor (-1.9 points) scores independent of the other potential confounders. Structured evaluation of brain MRI at term equivalent is predictive of outcome at 7 years of age, independent of clinical and social factors. ..
  4. Tung E, Kawata A, Rigden M, Bowers W, Caldwell D, Holloway A, et al. Gestational and Lactational Exposure to an Environmentally-Relevant Mixture of Brominated Flame Retardants: Effects on Neurodevelopment and Metabolism. Birth Defects Res. 2017;109:497-512 pubmed publisher
    ..Birth Defects Research 109:497-512, 2017.© 2017 The Authors Birth Defects Research Published by Wiley Periodicals, Inc. ..
  5. de Kovel C, Syrbe S, Brilstra E, Verbeek N, Kerr B, Dubbs H, et al. Neurodevelopmental Disorders Caused by De Novo Variants in KCNB1 Genotypes and Phenotypes. JAMA Neurol. 2017;74:1228-1236 pubmed publisher the ion channel domain and loss-of-function variants in this domain and the C-terminal likely cause neurodevelopmental disorders with or without seizures. Patients with presumed pathogenic variants in KCNB1 have a variable phenotype...
  6. Vogel A, Gutmann D, Morris S. Neurodevelopmental disorders in children with neurofibromatosis type 1. Dev Med Child Neurol. 2017;59:1112-1116 pubmed publisher
  7. Syrbe S, Harms F, Parrini E, Montomoli M, Mütze U, Helbig K, et al. Delineating SPTAN1 associated phenotypes: from isolated epilepsy to encephalopathy with progressive brain atrophy. Brain. 2017;140:2322-2336 pubmed publisher
  8. WALTER A, Yuan Y, Cabral H. Mental Health Services Utilization and Expenditures Among Children Enrolled in Employer-Sponsored Health Plans. Pediatrics. 2017;139:S127-S135 pubmed publisher
    ..As consumer-driven and high-deductible health plans continue to grow, enrollees need to be cognizant of the impact of health insurance benefit designs on health services offered in these plans. ..
  9. Marcello E, Borroni B, Pelucchi S, Gardoni F, Di Luca M. ADAM10 as a therapeutic target for brain diseases: from developmental disorders to Alzheimer's disease. Expert Opin Ther Targets. 2017;21:1017-1026 pubmed publisher
    ..ADAM10 activity is strictly correlated to the onset of different types of synaptopathies, ranging from neurodevelopmental disorders, i.e. autism spectrum disorders, to neurodegenerative diseases, i.e. Alzheimer's Disease...

More Information


  1. Anderko L. Project TENDR. Am J Nurs. 2017;117:61-64 pubmed publisher
    ..Toxic chemicals increase the risk of cognitive, behavioral, and neurodevelopmental disorders throughout the life span...
  2. 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. ..
  3. 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...
  4. Bennett D, Bellinger D, Birnbaum L, Bradman A, Chen A, Cory Slechta D, et al. Project TENDR: Targeting Environmental Neuro-Developmental Risks The TENDR Consensus Statement. Environ Health Perspect. 2016;124:A118-22 pubmed publisher
  5. 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 publisher
    Recent 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 ..
  6. 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. ..
  7. 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. ..
  8. 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. ..
  9. 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. ..
  10. 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
    ..15 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...
  11. 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. ..
  12. Vohr B, Poggi Davis E, Wanke C, Krebs N. Neurodevelopment: The Impact of Nutrition and Inflammation During Preconception and Pregnancy in Low-Resource Settings. Pediatrics. 2017;139:S38-S49 pubmed publisher
  13. 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. ..
  14. Krebs N, Lozoff B, Georgieff M. Neurodevelopment: The Impact of Nutrition and Inflammation During Infancy in Low-Resource Settings. Pediatrics. 2017;139:S50-S58 pubmed publisher
  15. Oberhuber R, Huemer S, Mair R, Sames Dolzer E, Kreuzer M, Tulzer G. Cognitive Development of School-Age Hypoplastic Left Heart Syndrome Survivors: A Single Center Study. Pediatr Cardiol. 2017;38:1089-1096 pubmed publisher
  16. 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
  17. 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)...
  18. 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. ..
  19. 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. ..
  20. Suchdev P, Boivin M, Forsyth B, Georgieff M, Guerrant R, Nelson C. Assessment of Neurodevelopment, Nutrition, and Inflammation From Fetal Life to Adolescence in Low-Resource Settings. Pediatrics. 2017;139:S23-S37 pubmed publisher
  21. 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...
  22. 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. ..
  23. 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. ..
  24. Korzeniewski S, Allred E, Joseph R, Heeren T, Kuban K, O Shea T, et al. Neurodevelopment at Age 10 Years of Children Born <28 Weeks With Fetal Growth Restriction. Pediatrics. 2017;140: pubmed publisher
  25. Shamseldin H, Alasmari A, Salih M, Samman M, Mian S, Alshidi T, et al. A null mutation in MICU2 causes abnormal mitochondrial calcium homeostasis and a severe neurodevelopmental disorder. Brain. 2017;140:2806-2813 pubmed publisher
  26. 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. ..
  27. 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...
  28. 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. ..
  29. 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. Identifier: NCT01192776. ..
  30. Bhutta Z, Guerrant R, Nelson C. Neurodevelopment, Nutrition, and Inflammation: The Evolving Global Child Health Landscape. Pediatrics. 2017;139:S12-S22 pubmed publisher
  31. Vall O, Salat Batlle J, Garcia Algar O. Alcohol consumption during pregnancy and adverse neurodevelopmental outcomes. J Epidemiol Community Health. 2015;69:927-9 pubmed publisher
  32. 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. ..
  33. 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...
  34. Obiols Guardia A, Guil S. The Role of Noncoding RNAs in Neurodevelopmental Disorders: The Case of Rett Syndrome. Adv Exp Med Biol. 2017;978:23-37 pubmed publisher
  35. 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
  36. 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 publisher
    Rare 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...
  37. 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...
  38. 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 ..
  39. Kapur P, Hayes D, Waddingham R, Hillman S, Deighton J, Midgley N. The experience of engaging with mental health services among young people who hear voices and their families: a mixed methods exploratory study. BMC Health Serv Res. 2014;14:527 pubmed publisher
  40. Depienne C, Nava C, Keren B, Heide S, Rastetter A, Passemard S, et al. Genetic and phenotypic dissection of 1q43q44 microdeletion syndrome and neurodevelopmental phenotypes associated with mutations in ZBTB18 and HNRNPU. Hum Genet. 2017;136:463-479 pubmed publisher
  41. 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...
  42. Barrett J. Pediatric vaccines and neurodevelopment: primate study finds no adverse behavioral effects. Environ Health Perspect. 2015;123:A156 pubmed publisher