Evaluation of learning difficulty and cognitive delay

References

Key articles

Harris JC. Developmental neuropsychiatry, volumes 1 and 2. Oxford, UK: Oxford University Press; 1998.

Baird G, Gringras P. Investigation of developmental delay. In: Rutter M, Bishop D, Pine D, et al. Child and adolescent psychiatry. 5th ed. Hoboken, NJ: Wiley-Blackwell; 2008.

Bellman M, Lingam S, Aukett A. Schedule of growing skills. 2nd ed. London, UK: NFER Nelson Publishing Company Ltd; 1996.

Reference articles

1. Harris JC. Developmental neuropsychiatry, volumes 1 and 2. Oxford, UK: Oxford University Press; 1998.

2. American Academy of Pediatrics. Caring for your school-age child ages 5 to 12. Itasca, IL: AAP Books; 2005.Full text

3. Rasmussen C, Bisanz J. Executive functioning in children with fetal alcohol spectrum disorders: profiles and age-related differences. Child Neuropsychology. 2009;15:201-15. Abstract

4. Rey-Casserly C, McGuinn L, Lavin A, et al. School-aged children who are not progressing academically: considerations for pediatricians. Pediatrics. 2019 Oct;144(4):e20192520.Full text  Abstract

5. Peterson RL, Pennington BF. Developmental dyslexia. Lancet. 2012;379:1997-2007.Full text  Abstract

6. Healthcare Quality Improvement Partnership. The Learning Disabilities Mortality Review – annual report 2018. 21 May 2019 [internet publication].Full text

7. Reichow B, Lemons CJ, Maggin DM, et al. Beginning reading interventions for children and adolescents with intellectual disability. Cochrane Database Syst Rev. 2019 Dec 5;12(12):CD011359.Full text  Abstract

8. Odding E, Roebroeck ME, Stam HJ. The epidemiology of cerebral palsy: incidence, impairments and risk factors. Disabil Rehabil. 2006 Feb 28;28(4):183-91. Abstract

9. Diehl JJ, Frost SJ, Sherman G, et al. Neural correlates of language and non-language visuospatial processing in adolescents with reading disability. Neuroimage. 2014;101:653-66.Full text  Abstract

10. Shaywitz SE, Shaywitz BA. Dyslexia (specific reading disability). Biol Psychiatry. 2005 Jun 1;57(11):1301-9. Abstract

11. Norton ES, Beach SD, Gabrieli J. Neurobiology of dyslexia. Curr Opin Neurobiol. 2015;30:73-8.Full text  Abstract

12. Carrion-Castillo A, Franke B, Fisher SE. Molecular genetics of dyslexia: an overview. Dyslexia. 2013;19:214-40.Full text  Abstract

13. Giraud AL, Ramus F. Neurogenetics and auditory processing in developmental dyslexia. Curr Opin Neurobiol. 2013;23:37-42. Abstract

14. von Aster MG, Shalev RS. Number development and developmental dyscalculia. Dev Med Child Neurol. 2007 Nov;49(11):868-73.Full text  Abstract

15. Antshel KM. Attention-deficit hyperactivity disorder in the context of a high intellectual quotient/giftedness. Dev Disabil Res Rev. 2008;14:293-9. Abstract

16. Taylor E. Developing ADHD. J Child Psychol Psychiatry. 2009;50:126-32. Abstract

17. Newbury DF, Paracchini S, Scerri TS, et al. Investigation of dyslexia and SLI risk variants in reading- and language-impaired subjects. Behav Genet. 2011;41:90-104.Full text  Abstract

18. Bishop DV. Genes, cognition, and communication: insights from neurodevelopmental disorders. Ann N Y Acad Sci. 2009 Mar;1156(1):1-18.Full text  Abstract

19. Lai CS, Fisher SE, Hurst JA, et al. A forkhead-domain gene is mutated in a severe speech and language disorder. Nature. 2001;413:519-23. Abstract

20. Polatajko HJ, Cantin N. Developmental coordination disorder (dyspraxia): an overview of the state of the art. Semin Pediatr Neurol. 2005;12:250-8. Abstract

21. Gibbs J, Appleton J, Appleton R. Dyspraxia or developmental coordination disorder? Unravelling the enigma. Arch Dis Child. 2007;92:534-9. Abstract

22. Steinman KJ, Mostofsky SH, Denckla MB. Toward a narrower, more pragmatic view of developmental dyspraxia. J Child Neurol. 2010;25:71-81.Full text  Abstract

23. Silverman W. Down syndrome: cognitive phenotype. Ment Retard Dev Disabil Res Rev. 2007;13:228-36. Abstract

24. Gillberg C, Coleman M. Autism and medical disorders: a review of the literature. Dev Med Child Neurol. 1996;38:191-202. Abstract

25. Visootsak J, Warren ST, Anido A, et al. Fragile X syndrome: an update and review for the primary pediatrician. Clin Pediatr (Phila). 2005 Jun;44(5):371-81. Abstract

26. Tsai AC, Pickler L, Tartaglia N, et al. Chromosomal disorders and fragile X syndrome. In: Developmental-behavioral pediatrics, 4th ed, Carey WB, Crocker AC, Coleman WL, et al (Eds). Saunders Elsevier, Philadelphia; 2009: 224.

27. Hagerman RJ. Fragile-X chromosome and learning disability. J Am Acad Child Adolesc Psychiatry. 1987;26:938. Abstract

28. Hagerman RJ. Annotation: fragile X syndrome: advances and controversy. J Child Psychol Psychiatry. 1992;33:1127-39. Abstract

29. Consensus of the Fragile X Clinical & Research Consortium on Clinical Practices. Autism spectrum disorder in fragile X syndrome. Nov 2014 [internet publication].Full text

30. McCandless SE; Committee on Genetics. Clinical report - health supervision for children with Prader-Willi syndrome. Pediatrics. 2011;127:195-204.Full text  Abstract

31. Clayton-Smith J, Laan L. Angelman syndrome: a review of the clinical and genetic aspects. J Med Genet. 2003;40:87-95.Full text  Abstract

32. Burnside RD, Pasion R, Mikhail FM, et al. Microdeletion/microduplication of proximal 15q11.2 between BP1 and BP2: a susceptibility region for neurological dysfunction including developmental and language delay. Hum Genet. 2011;130:517-28.Full text  Abstract

33. Al Ageeli E, Drunat S, Delanoë C, et al. Duplication of the 15q11-q13 region: clinical and genetic study of 30 new cases. Eur J Med Genet. 2014;57:5-14. Abstract

34. Martens MA, Wilson SJ, Reutens DC. Research Review: Williams syndrome: a critical review of the cognitive, behavioral, and neuroanatomical phenotype. J Child Psychol Psychiatry. 2008;49:576-608. Abstract

35. Naidu S, Bibat G, Kratz L, et al. Clinical variability in Rett syndrome. J Child Neurol. 2003;18:662-8. Abstract

36. Nomura Y, Segawa M. Natural history of Rett syndrome. J Child Neurol. 2005;20:764-8. Abstract

37. Ross J, Zinn A, McCauley E. Neurodevelopmental and psychosocial aspects of Turner syndrome. Ment Retard Dev Disabil Res Rev. 2000;6:135-41. Abstract

38. Prather P, de Vries PJ. Behavioral and cognitive aspects of tuberous sclerosis complex. J Child Neurol. 2004 Sep;19(9):666-74. Abstract

39. Antshel KM, Fremont W, Kates WR. The neurocognitive phenotype in velo-cardio-facial syndrome: a developmental perspective. Dev Disabil Res Rev. 2008;14:43-51. Abstract

40. Hanson E, Nasir RH, Fong A, et al. Cognitive and behavioral characterization of 16p11.2 deletion syndrome. J Dev Behav Pediatr. 2010;31:649-57. Abstract

41. Hanson E, Bernier R, Porche K, et al. The cognitive and behavioral phenotype of the 16p11.2 deletion in a clinically ascertained population. Biol Psychiatry. 2015;77:785-93.Full text  Abstract

42. Moreno-De-Luca A, Evans DW, Boomer KB, et al. The role of parental cognitive, behavioral, and motor profiles in clinical variability in individuals with chromosome 16p11.2 deletions. JAMA Psychiatry. 2015;72:119-26.Full text  Abstract

43. Bai D, Yip BHK, Windham GC, et al. Association of genetic and environmental factors with autism in a 5-country cohort. JAMA Psychiatry. 2019 Oct 1;76(10):1035-43.Full text  Abstract

44. Volkmar FR, Lord C, Bailey A, et al. Autism and pervasive developmental disorders. J Child Psychol Psychiatry. 2004 Jan;45(1):135-70. Abstract

45. National Institute for Health and Care Excellence. Autism spectrum disorder in under 19s: recognition, referral and diagnosis. Dec 2017 [internet publication].Full text  Abstract

46. American Psychiatric Association. Diagnostic and statistical manual of mental disorders, 5th ed., text revision (DSM-5-TR). Washington, DC: American Psychiatric Publishing; 2022.

47. Hyman SL, Levy SE, Myers SM; Committee On Psychosocial Aspects of Child and Family Health, Section On Developmental and Behavioral Pediatrics. Executive summary: identification, evaluation, and management of children with autism spectrum disorder. Pediatrics. 2020 Jan;145(1):e20193448.Full text  Abstract

48. Swineford LB, Thurm A, Baird G, et al. Social (pragmatic) communication disorder: a research review of this new DSM-5 diagnostic category. J Neurodev Disord. 2014;6:41.Full text  Abstract

49. Malm G, Engman ML. Congenital cytomegalovirus infections. Semin Fetal Neonatal Med. 2007;12:154-9. Abstract

50. Petersen E. Toxoplasmosis. Semin Fetal Neonatal Med. 2007;12:214-23. Abstract

51. Best JM. Rubella. Semin Fetal Neonatal Med. 2007;12:182-92. Abstract

52. O'Leary CM. Fetal alcohol syndrome: diagnosis, epidemiology, and developmental outcomes. J Paediatr Child Health. 2004;40:2-7. Abstract

53. Williams JH, Ross L. Consequences of prenatal toxin exposure for mental health in children and adolescents: a systematic review. Eur Child Adolesc Psychiatry. 2007;16:243-53. Abstract

54. Harden CL. Antiepileptic drug teratogenesis: what are the risks for congenital malformations and adverse cognitive outcomes? Int Rev Neurobiol. 2008;83:205-13. Abstract

55. Walker DM, Marlow N. Neurocognitive outcome following fetal growth restriction. Arch Dis Child Fetal Neonatal Ed. 2008;93:F322-5. Abstract

56. Delobel-Ayoub M, Arnaud C, White-Koning M, et al. Behavioral problems and cognitive performance at 5 years of age after very preterm birth: the EPIPAGE Study. Pediatrics. 2009;123:1485-92. Abstract

57. Rennie JM, Hagmann CF, Robertson NJ. Outcome after intrapartum hypoxic ischaemia at term. Semin Fetal Neonatal Med. 2007;12:398-407. Abstract

58. Pin TW, Eldridge B, Galea MP. A review of developmental outcomes of term infants with post-asphyxia neonatal encephalopathy. Eur J Paediatr Neurol. 2009;13:224-34. Abstract

59. Carter JA, Neville BG, Newton CR. Neuro-cognitive impairment following acquired central nervous system infections in childhood: a systematic review. Brain Res Brain Res Rev. 2003;43:57-69. Abstract

60. Fellick JM, Sills JA, Marzouk O, et al. Neurodevelopmental outcome in meningococcal disease: a case-control study. Arch Dis Child. 2001;85:6-11.Full text  Abstract

61. Mulhern RK, Merchant TE, Gajjar A, et al. Late neurocognitive sequelae in survivors of brain tumours in childhood. Lancet Oncol. 2004;5:399-408. Abstract

62. Jayawant S, Parr J. Outcome following subdural haemorrhages in infancy. Arch Dis Child. 2007;92:343-7. Abstract

63. Johnson AR, DeMatt E, Salorio CF. Predictors of outcome following acquired brain injury in children. Dev Disabil Res Rev. 2009;15:124-32. Abstract

64. Slomine B, Locascio G. Cognitive rehabilitation for children with acquired brain injury. Dev Disabil Res Rev. 2009;15:133-43. Abstract

65. Kriel RL, Krach LE, Luxenberg MG, et al. Outcome of severe anoxic/ischemic brain injury in children. Pediatr Neurol. 1994;10:207-12. Abstract

66. Jackson DC, Dabbs K, Walker NM, et al. The neuropsychological and academic substrate of new/recent-onset epilepsies. J Pediatr. 2013;162:1047-53;e1.Full text  Abstract

67. Masur D, Shinnar S, Cnaan A, et al. Pretreatment cognitive deficits and treatment effects on attention in childhood absence epilepsy. Neurology. 2013;81:1572-80.Full text  Abstract

68. Turner SJ, Morgan AT, Perez ER, et al. New genes for focal epilepsies with speech and language disorders. Curr Neurol Neurosci Rep. 2015;15:35. Abstract

69. Sánchez Fernández I, Chapman KE, Peters JM, et al. Continuous spikes and waves during sleep: electroclinical presentation and suggestions for management. Epilepsy Res Treat. 2013;2013:583531.Full text  Abstract

70. Rose SR, Wassner AJ, Wintergerst KA, et al. Congenital hypothyroidism: screening and management. Pediatrics. 2023 Jan; 151(1): e2022060419.Full text

71. NHS England. Laboratory guide to screening for CHT in the UK: screening protocol. Oct 2020 [internet publication].Full text

72. Jones DE, Hart K, Shapira SK, et al. Identification of primary congenital hypothyroidism based on two newborn screens - Utah, 2010-2016. MMWR Morb Mortal Wkly Rep. 2018 Jul 20;67(28):782-5.Full text  Abstract

73. van Wegberg AMJ, MacDonald A, Ahring K, et al. The complete European guidelines on phenylketonuria: diagnosis and treatment. Orphanet J Rare Dis. 2017 Oct 12;12(1):162.Full text  Abstract

74. Rutter M. Developmental catch-up, and deficit, following adoption after severe global early privation: English and Romanian Adoptees (ERA) Study Team. J Child Psychol Psychiatry. 1998;39:465-76. Abstract

75. Beckett C, Maughan B, Rutter M, et al. Do the effects of early severe deprivation on cognition persist into early adolescence? Findings from the English and Romanian adoptees study. Child Dev. 2006;77:696-711. Abstract

76. Baird G, Gringras P. Investigation of developmental delay. In: Rutter M, Bishop D, Pine D, et al. Child and adolescent psychiatry. 5th ed. Hoboken, NJ: Wiley-Blackwell; 2008.

77. Bellman M, Lingam S, Aukett A. Schedule of growing skills. 2nd ed. London, UK: NFER Nelson Publishing Company Ltd; 1996.

78. Horridge KA. Assessment and investigation of the child with disordered development. Arch Dis Child Educ Pract Ed. 2011;96:9-20. Abstract

79. Michelson DJ, Shevell MI, Sherr EH, et al. Evidence report: genetic and metabolic testing on children with global developmental delay: report of the Quality Standards Subcommittee of the American Academy of Neurology and the Practice Committee of the Child Neurology Society. Neurology. 2011;77:1629-35.Full text

80. Dyckhoff-Shen S, Koedel U, Pfister HW, Klein M. SOP: emergency workup in patients with suspected acute bacterial meningitis. Neurol Res Pract. 2021 Jan 7;3(1):2.Full text  Abstract

81. Cabellos C, Verdaguer R, Olmo M, et al. Community-acquired bacterial meningitis in elderly patients: experience over 30 years. Medicine (Baltimore). 2009 Mar;88(2):115-9.Full text  Abstract

82. Choi C. Bacterial meningitis in aging adults. Clin Infect Dis. 2001 Oct 15;33(8):1380-5.Full text  Abstract

83. American Academy of Neurology. Chromosomal microarray analysis for intellectual disabilities. 2013 [internet publication].Full text

84. Riggs ER, Andersen EF, Cherry AM, et al. Technical standards for the interpretation and reporting of constitutional copy-number variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics (ACMG) and the Clinical Genome Resource (ClinGen). Genet Med. 2020 Feb;22(2):245-57.Full text  Abstract

85. Soden SE, Saunders CJ, Willig LK, et al. Effectiveness of exome and genome sequencing guided by acuity of illness for diagnosis of neurodevelopmental disorders. Sci Transl Med. 2014;6:265ra168. Abstract

86. Nussbaum R, McInnes R, Willard H, et al. Thompson & Thompson genetics in medicine, 6th ed. Philadelphia, PA: Saunders; 2004:157-79.

87. Hunter AGW. Down syndrome. In: Cassidy SB, Allanson JE, eds. Management of genetic syndromes, 2nd ed. Hoboken, NJ: Wiley-Liss; 2005:191-210.

88. Irving CA, Chaudhari MP. Cardiovascular abnormalities in Down's syndrome: spectrum, management and survival over 22 years. Arch Dis Child. 2012 Apr;97(4):326-30.Full text  Abstract

89. Weijerman ME, van Furth AM, Vonk Noordegraaf A, et al. Prevalence, neonatal characteristics, and first-year mortality of Down syndrome: a national study. J Pediatr. 2008 Jan;152(1):15-9. Abstract

90. Amir RE, Van den Veyver IB, Wan M, et al. Rett syndrome is caused by mutations in X-linked MECP2, encoding methyl-CpG-binding protein 2. Nat Genet. 1999;23:185-8. Abstract

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