学习困难和认知滞后的评估

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.

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.全文

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. 摘要

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.全文  摘要

5. Peterson RL, Pennington BF. Developmental dyslexia. Lancet. 2012;379:1997-2007.全文  摘要

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

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.全文  摘要

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. 摘要

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.全文  摘要

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

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

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

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

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

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

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

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.全文  摘要

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

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. 摘要

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

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

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

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

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

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. 摘要

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. 摘要

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

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

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

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

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.全文  摘要

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. 摘要

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. 摘要

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

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

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

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

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. 摘要

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. 摘要

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.全文  摘要

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.全文  摘要

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.全文  摘要

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

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

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.全文  摘要

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.全文  摘要

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

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

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

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

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. 摘要

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

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

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. 摘要

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

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. 摘要

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. 摘要

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.全文  摘要

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. 摘要

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

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

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

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

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.全文  摘要

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.全文  摘要

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. 摘要

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.全文  摘要

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

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

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.全文  摘要

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.全文  摘要

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. 摘要

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. 摘要

76. National Institute for Health and Care Excellence. Attention deficit hyperactivity disorder: diagnosis and management. NICE clinical guideline [NG87]. Sep 2019 [internet publication].全文  摘要

77. Wolraich ML, Hagan JF Jr, Allan C, et al; Subcommittee On Children and Adolescents With Attention-Deficit/Hyperactive Disorder. Clinical practice guideline for the diagnosis, evaluation, and treatment of attention-deficit/hyperactivity disorder in children and adolescents. Pediatrics. 2019 Oct;144(4):e20192528.全文  摘要

78. 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.

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

80. National Institute for Health and Care Excellence. Dementia: assessment, management and support for people living with dementia and their carers. NICE guideline [NG97]. Jun 2018 [internet publication].全文  摘要

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

82. 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.全文

83. Dyckhoff-Shen S, Koedel U, Pfister HW, et al. SOP: emergency workup in patients with suspected acute bacterial meningitis. Neurol Res Pract. 2021 Jan 7;3(1):2.全文  摘要

84. 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.全文  摘要

85. Choi C. Bacterial meningitis in aging adults. Clin Infect Dis. 2001 Oct 15;33(8):1380-5.全文  摘要

86. American Academy of Neurology. Chromosomal microarray analysis for intellectual disabilities. 2013 [internet publication].全文

87. 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.全文  摘要

88. 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. 摘要

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

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

91. 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.全文  摘要

92. 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. 摘要

93. 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. 摘要