Literature DB >> 1861938

Verbal dyspraxia in treated galactosemia.

C D Nelson1, D D Waggoner, G N Donnell, J M Tuerck, N R Buist.   

Abstract

Galactosemia is an inborn error of metabolism that causes life-threatening illness a few days after galactose-containing milk is fed to a newborn. Early treatment with a strict lactose-free diet results in rapid improvement, and, until recently, it was thought that the long-term prognosis in such infants was usually good. The speech characteristics of 24 patients treated for galactosemia were examined. Fifty-four percent had the specific speech disorder, verbal dyspraxia. This finding was not related to age at diagnosis, severity of symptoms in the newborn period, or to biochemical control. There may be, however, a relation between dyspraxia and diminished IQ scores observed in the group of patients with dyspraxia judged as "severe." The findings indicate the association of a specific and unusual speech defect with a specific and rare metabolic disorder.

Entities:  

Mesh:

Year:  1991        PMID: 1861938

Source DB:  PubMed          Journal:  Pediatrics        ISSN: 0031-4005            Impact factor:   7.124


  20 in total

1.  Recommendations for the management of galactosaemia. UK Galactosaemia Steering Group.

Authors:  J H Walter; J E Collins; J V Leonard
Journal:  Arch Dis Child       Date:  1999-01       Impact factor: 3.791

2.  Introduction to the Maastricht workshop: lessons from the past and new directions in galactosemia.

Authors:  Gerard T Berry; Louis J Elsas
Journal:  J Inherit Metab Dis       Date:  2010-11-30       Impact factor: 4.982

3.  Long-term prognosis in galactosaemia: results of a survey of 350 cases.

Authors:  D D Waggoner; N R Buist; G N Donnell
Journal:  J Inherit Metab Dis       Date:  1990       Impact factor: 4.982

4.  Verbal dyspraxia in children with galactosemia.

Authors:  D Nelson
Journal:  Eur J Pediatr       Date:  1995       Impact factor: 3.183

5.  Differential phonological awareness skills in children with classic galactosemia: a descriptive study of four cases.

Authors:  Fiona M Lewis; David J Coman; Maryann Syrmis; Sarah Kilcoyne; Bruce E Murdoch
Journal:  JIMD Rep       Date:  2012-12-29

Review 6.  Appropriateness of newborn screening for classic galactosaemia: a systematic review.

Authors:  L Varela-Lema; L Paz-Valinas; G Atienza-Merino; R Zubizarreta-Alberdi; R Vizoso Villares; M López-García
Journal:  J Inherit Metab Dis       Date:  2016-04-26       Impact factor: 4.982

7.  Cross-sectional analysis of speech and cognitive performance in 32 patients with classic galactosemia.

Authors:  Björn Hoffmann; Udo Wendel; Susanne Schweitzer-Krantz
Journal:  J Inherit Metab Dis       Date:  2011-02-24       Impact factor: 4.982

8.  The impact of galactosaemia on quality of life--a pilot study.

Authors:  C Lambert; A Boneh
Journal:  J Inherit Metab Dis       Date:  2004       Impact factor: 4.982

9.  Cognitive functioning and psychiatric disorders in children with a metabolic disease.

Authors:  Annik Simons; François Eyskens; Ann De Groof; Ellen Van Diest; Dirk Deboutte; Robert Vermeiren
Journal:  Eur Child Adolesc Psychiatry       Date:  2006-03-10       Impact factor: 4.785

10.  Cryptic residual GALT activity is a potential modifier of scholastic outcome in school age children with classic galactosemia.

Authors:  Emily L Ryan; Mary Ellen Lynch; Elles Taddeo; Tyler J Gleason; Michael P Epstein; Judith L Fridovich-Keil
Journal:  J Inherit Metab Dis       Date:  2013-01-15       Impact factor: 4.982

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