Literature DB >> 2629623

Screening for Duchenne muscular dystrophy.

R A Smith1, M Rogers, D M Bradley, J R Sibert, P S Harper.   

Abstract

A programme was introduced in Wales to screen all 18 month old boys who were not yet walking for raised creatine kinase activity within the existing community developmental screening programme. During an 18 month period 25 229 such boys were identified of whom 19 930 (79%) had a Denver developmental screening test and 338 (1.7%) of these were not walking. Two hundred and five of those who did not walk (61%) had creatine kinase activity assayed and two cases of Duchenne muscular dystrophy were detected. We conclude that screening boys of 18 months who do not walk is worthwhile if the opportunity arises, but that a population based screening programme of this type is not justified as detection rates will be unacceptably low.

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Year:  1989        PMID: 2629623      PMCID: PMC1792699          DOI: 10.1136/adc.64.7.1017

Source DB:  PubMed          Journal:  Arch Dis Child        ISSN: 0003-9888            Impact factor:   3.791


  21 in total

1.  Screening for inherited diseases.

Authors:  C A Janeway
Journal:  N Engl J Med       Date:  1971-04-08       Impact factor: 91.245

2.  Norms for four standard developmental milestones by sex, social class and place in family.

Authors:  G Neligan; D Prudham
Journal:  Dev Med Child Neurol       Date:  1969-08       Impact factor: 5.449

3.  Systematic neonatal screening for Duchenne muscular dystrophy.

Authors:  C Dellamonica; J M Robert; J Cotte; C Collombel; G Dorche
Journal:  Lancet       Date:  1978-11-18       Impact factor: 79.321

4.  Feasibility of neonatal screening for Duchenne muscular dystrophy.

Authors:  R Skinner; A E Emery; G Scheuerbrandt; J Syme
Journal:  J Med Genet       Date:  1982-02       Impact factor: 6.318

5.  Diagnostic delay in Duchenne's muscular dystrophy.

Authors:  D E Crisp; F A Ziter; P F Bray
Journal:  JAMA       Date:  1982 Jan 22-29       Impact factor: 56.272

6.  Early diagnosis of Duchenne muscular dystrophy.

Authors:  D Gardner-Medwin; S Bundey; S Green
Journal:  Lancet       Date:  1978-05-20       Impact factor: 79.321

7.  Newborn screening for Duchenne muscular dystrophy.

Authors:  H Zellweger; A Antonik
Journal:  Pediatrics       Date:  1975-01       Impact factor: 7.124

8.  [Newborn screening for Duchenne muscular dystrophy (author's transl)].

Authors:  T Grimm
Journal:  Monatsschr Kinderheilkd       Date:  1981-07       Impact factor: 0.323

9.  Screening for neonatal Duchenne muscular dystrophy by bioluminescence measurement of creatine kinase in a blood sample spotted on paper.

Authors:  C Dellamonica; C Collombel; J Cotte; P Addis
Journal:  Clin Chem       Date:  1983-01       Impact factor: 8.327

10.  Creatine phosphokinase levels in the newborn and their use in screening for Duchenne muscular dystrophy.

Authors:  L M Drummond
Journal:  Arch Dis Child       Date:  1979-05       Impact factor: 3.791

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  8 in total

1.  Duchenne muscular dystrophy: relevant paper was not included.

Authors:  R A Smith; R S Phillips
Journal:  BMJ       Date:  2001-11-24

Review 2.  Biochemical neonatal screening.

Authors:  B Modell
Journal:  BMJ       Date:  1990-06-30

Review 3.  Should creatine kinase be checked in all boys presenting with speech delay?

Authors:  Claire T Lundy; Gary M Doherty; Elaine M Hicks
Journal:  Arch Dis Child       Date:  2007-07       Impact factor: 3.791

4.  Attitudes of mothers to neonatal screening for Duchenne muscular dystrophy.

Authors:  R A Smith; D K Williams; J R Sibert; P S Harper
Journal:  BMJ       Date:  1990-04-28

5.  Newborn screening for Duchenne muscular dystrophy: a psychosocial study.

Authors:  E P Parsons; A J Clarke; K Hood; E Lycett; D M Bradley
Journal:  Arch Dis Child Fetal Neonatal Ed       Date:  2002-03       Impact factor: 5.747

6.  Screening for Duchenne muscular dystrophy.

Authors:  J Fenton-May; D M Bradley; J R Sibert; R Smith; E P Parsons; P S Harper; A Clarke
Journal:  Arch Dis Child       Date:  1994-06       Impact factor: 3.791

7.  Experience with screening newborns for Duchenne muscular dystrophy in Wales.

Authors:  D M Bradley; E P Parsons; A J Clarke
Journal:  BMJ       Date:  1993-02-06

8.  Newborn bloodspot screening for Duchenne muscular dystrophy: 21 years experience in Wales (UK).

Authors:  Stuart J Moat; Donald M Bradley; Rachel Salmon; Angus Clarke; Louise Hartley
Journal:  Eur J Hum Genet       Date:  2013-01-23       Impact factor: 4.246

  8 in total

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