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Published in: Indian Journal of Pediatrics 6/2014

01-06-2014 | Pediatrics in General Practice

Diagnosis and Management of Down Syndrome

Authors: Neerja Agarwal Gupta, Madhulika Kabra

Published in: Indian Journal of Pediatrics | Issue 6/2014

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Abstract

Down syndrome is the commonest chromosomal disorder causing mild to moderate intellectual disability, yet it is one of the neglected disorder amongst practicing physicians. Children with Down syndrome when intervened early by speech therapy, physiotherapy and occupational therapy and given proper medical attention for different health issues, can have a better long term outcome as compared to other genetic causes of intellectual disability. This paper would help the general practitioners to identify children with Down syndrome and to manage the common problems associated with this condition.
Literature
1.
go back to reference Styles ME, Cole TJ, Dennis J, Preece MA. New cross sectional stature, weight, and head circumference references for Down’s syndrome in the UK and Republic of Ireland. Arch Dis Child. 2002;87:104–8.PubMedCentralPubMedCrossRef Styles ME, Cole TJ, Dennis J, Preece MA. New cross sectional stature, weight, and head circumference references for Down’s syndrome in the UK and Republic of Ireland. Arch Dis Child. 2002;87:104–8.PubMedCentralPubMedCrossRef
2.
go back to reference Bull MJ. Committee on genetics. Health supervision for children with Down syndrome. Pediatrics. 2011;128:393–406.PubMedCrossRef Bull MJ. Committee on genetics. Health supervision for children with Down syndrome. Pediatrics. 2011;128:393–406.PubMedCrossRef
4.
go back to reference Carter JC, Capone GT, Gray RM, Cox CS, Kaufmann WE. Autistic-spectrum disorders in Down syndrome: Further delineation and distinction from other behavioral abnormalities. Am J Med Genet B Neuropsychiatr Genet. 2007;144B:87–94.PubMedCrossRef Carter JC, Capone GT, Gray RM, Cox CS, Kaufmann WE. Autistic-spectrum disorders in Down syndrome: Further delineation and distinction from other behavioral abnormalities. Am J Med Genet B Neuropsychiatr Genet. 2007;144B:87–94.PubMedCrossRef
5.
go back to reference Molloy C, Murray S, Kinsman A, Castillo H, Mitchell T, Hickey FJ, et al. Differences in the clinical presentation of trisomy 21 with and without autism. J Intellect Disabil Res. 2009;53:143–51.PubMedCrossRef Molloy C, Murray S, Kinsman A, Castillo H, Mitchell T, Hickey FJ, et al. Differences in the clinical presentation of trisomy 21 with and without autism. J Intellect Disabil Res. 2009;53:143–51.PubMedCrossRef
6.
go back to reference Hunter AGW. Down syndrome. In: Cassidy SB, Allanson JE, eds. Management of Genetic Syndromes. 3rd ed. USA: Wiley Blackwell; 2010. Hunter AGW. Down syndrome. In: Cassidy SB, Allanson JE, eds. Management of Genetic Syndromes. 3rd ed. USA: Wiley Blackwell; 2010.
7.
go back to reference ACOG Committee on Practice Bulletins. ACOG practice bulletin No. 77: Screening for fetal chromosomal abnormalities. Obstet Gynecol. 2007;109:217–27.CrossRef ACOG Committee on Practice Bulletins. ACOG practice bulletin No. 77: Screening for fetal chromosomal abnormalities. Obstet Gynecol. 2007;109:217–27.CrossRef
8.
go back to reference American College of Obstetricians and Gynecologists. ACOG practice bulletin No. 88: Invasive prenatal testing for aneuploidy. Obstet Gynecol. 2007;110:1459–67.CrossRef American College of Obstetricians and Gynecologists. ACOG practice bulletin No. 88: Invasive prenatal testing for aneuploidy. Obstet Gynecol. 2007;110:1459–67.CrossRef
9.
go back to reference Benn P, Borell A, Chiu R, Cuckle H, Dugoff L, Faas B, et al. Position statement from the Aneuploidy Screening Committee on behalf of the Board of the International Society for Prenatal Diagnosis. Prenat Diagn. 2013;33:622–9.PubMedCrossRef Benn P, Borell A, Chiu R, Cuckle H, Dugoff L, Faas B, et al. Position statement from the Aneuploidy Screening Committee on behalf of the Board of the International Society for Prenatal Diagnosis. Prenat Diagn. 2013;33:622–9.PubMedCrossRef
10.
go back to reference Malec E, Mroczek T, Pajak J, Januszewska K, Zdebska E. Results of surgical treatment of congenital heart defects in children with Down’s syndrome. Pediatr Cardiol. 1999;20:351–4.PubMedCrossRef Malec E, Mroczek T, Pajak J, Januszewska K, Zdebska E. Results of surgical treatment of congenital heart defects in children with Down’s syndrome. Pediatr Cardiol. 1999;20:351–4.PubMedCrossRef
11.
go back to reference Bhatia S, Verma IC, Shrivastava S. Congenital heart disease in Down syndrome: An echocardiographic study. Indian Pediatr. 1992;29:1113–6.PubMed Bhatia S, Verma IC, Shrivastava S. Congenital heart disease in Down syndrome: An echocardiographic study. Indian Pediatr. 1992;29:1113–6.PubMed
12.
go back to reference Nahar R, Kotecha U, Puri RD, Pandey RM, Verma IC. Survival analysis of down syndrome cohort in a tertiary health care center in India. Indian J Pediatr. 2013;80:118–23.PubMedCrossRef Nahar R, Kotecha U, Puri RD, Pandey RM, Verma IC. Survival analysis of down syndrome cohort in a tertiary health care center in India. Indian J Pediatr. 2013;80:118–23.PubMedCrossRef
13.
go back to reference Masuda M, Kado H, Tanoue Y, Fukae K, Onzuka T, Shiokawa Y, et al. Does Down syndrome affect the long-term results of complete atrioventricular septal defect when the defect is repaired during the first year of life? Eur J Cardiothorac Surg. 2005;27:405–9.PubMedCrossRef Masuda M, Kado H, Tanoue Y, Fukae K, Onzuka T, Shiokawa Y, et al. Does Down syndrome affect the long-term results of complete atrioventricular septal defect when the defect is repaired during the first year of life? Eur J Cardiothorac Surg. 2005;27:405–9.PubMedCrossRef
14.
go back to reference Bhat AS, Chaturvedi MK, Saini S, Bhatnagar S, Gupta N, Sapra S, et al. Prevalence of celiac disease in Indian children with Down syndrome and its clinical and laboratory predictors. Indian J Pediatr. 2013;80:114–7.PubMedCrossRef Bhat AS, Chaturvedi MK, Saini S, Bhatnagar S, Gupta N, Sapra S, et al. Prevalence of celiac disease in Indian children with Down syndrome and its clinical and laboratory predictors. Indian J Pediatr. 2013;80:114–7.PubMedCrossRef
15.
go back to reference Hankinson TC, Anderson RC. Craniovertebral junction abnormalities in Down syndrome. Neurosurgery. 2010;66:A32–8.CrossRef Hankinson TC, Anderson RC. Craniovertebral junction abnormalities in Down syndrome. Neurosurgery. 2010;66:A32–8.CrossRef
16.
go back to reference Salman M. Systematic review of the effect of therapeutic dietary supplements and drugs on cognitive function in subjects with Down syndrome. Eur J Paediatr Neurol. 2002;6:213–9.PubMedCrossRef Salman M. Systematic review of the effect of therapeutic dietary supplements and drugs on cognitive function in subjects with Down syndrome. Eur J Paediatr Neurol. 2002;6:213–9.PubMedCrossRef
17.
go back to reference Kishnani PS, Heller JH, Spiridigliozzi GA, Lott I, Escobar L, Richardson S, et al. Donepezil for treatment of cognitive dysfunction in children with Down syndrome aged 10–17. Am J Med Genet A. 2010;152A:3028–35.PubMedCrossRef Kishnani PS, Heller JH, Spiridigliozzi GA, Lott I, Escobar L, Richardson S, et al. Donepezil for treatment of cognitive dysfunction in children with Down syndrome aged 10–17. Am J Med Genet A. 2010;152A:3028–35.PubMedCrossRef
18.
go back to reference Heller JH, Spiridigliozzi GA, Crissman BG, McKillop JA, Yamamoto H, Kishnani PS. Safety and efficacy of rivastigmine in adolescents with Down syndrome: Long-term follow-up. J Child Adolesc Psychopharmacol. 2010;20:517–20.PubMedCentralPubMedCrossRef Heller JH, Spiridigliozzi GA, Crissman BG, McKillop JA, Yamamoto H, Kishnani PS. Safety and efficacy of rivastigmine in adolescents with Down syndrome: Long-term follow-up. J Child Adolesc Psychopharmacol. 2010;20:517–20.PubMedCentralPubMedCrossRef
19.
go back to reference Mohan M, Carpenter PK, Bennett C. Donepezil for dementia in people with Down syndrome. Cochrane Database Syst Rev. 2009;1:CD007178.PubMed Mohan M, Carpenter PK, Bennett C. Donepezil for dementia in people with Down syndrome. Cochrane Database Syst Rev. 2009;1:CD007178.PubMed
20.
go back to reference Sheets KB, Crissman BG, Feist CD, Sell SL, Johnson LR, Donahue KC, et al. Practice guidelines for communicating a prenatal or postnatal diagnosis of Down syndrome: Recommendations of the national society of genetic counselors. J Genet Couns. 2011;20:432–41.PubMedCrossRef Sheets KB, Crissman BG, Feist CD, Sell SL, Johnson LR, Donahue KC, et al. Practice guidelines for communicating a prenatal or postnatal diagnosis of Down syndrome: Recommendations of the national society of genetic counselors. J Genet Couns. 2011;20:432–41.PubMedCrossRef
21.
go back to reference Skotko BG, Capone GT, Kishnani PS. Postnatal diagnosis of down syndrome: Synthesis of the evidence on how best to deliver the news. Pediatrics. 2009;124:e751.PubMedCrossRef Skotko BG, Capone GT, Kishnani PS. Postnatal diagnosis of down syndrome: Synthesis of the evidence on how best to deliver the news. Pediatrics. 2009;124:e751.PubMedCrossRef
22.
go back to reference Gardner RJM, Sutherland GR. Chromosome abnormalities and genetic counseling. 3rd ed. New York: Oxford University Press, Inc; 2004. Gardner RJM, Sutherland GR. Chromosome abnormalities and genetic counseling. 3rd ed. New York: Oxford University Press, Inc; 2004.
23.
go back to reference Harper PS. Practical genetic counselling. 6th ed. London: Edward Arnold, Ltd; 2004. Harper PS. Practical genetic counselling. 6th ed. London: Edward Arnold, Ltd; 2004.
Metadata
Title
Diagnosis and Management of Down Syndrome
Authors
Neerja Agarwal Gupta
Madhulika Kabra
Publication date
01-06-2014
Publisher
Springer India
Published in
Indian Journal of Pediatrics / Issue 6/2014
Print ISSN: 0019-5456
Electronic ISSN: 0973-7693
DOI
https://doi.org/10.1007/s12098-013-1249-7

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