The need for additional care in patients with classical galactosaemia

Disability and Rehabilitation
Lindsey WellingAnnet M Bosch

Abstract

Purpose: Classical galactosaemia is an inborn error of galactose metabolism which may lead to impairments in body functions and accordingly, need for additional care. The primary aim of this study was to establish the type and intensity of this additional care. Materials and methods: Patients with classical galactosaemia aged ≥2 years were evaluated with the Capacity Profile, a standardised method to classify additional care needs according to type and intensity. Based on a semi-structured interview, current impairments in five domains of body functions were determined. The intensity of additional care was assessed (from 0, usual care, to 5, total dependence). Results: Forty-four patients with classical galactosaemia, 18 males and 26 females (median age 15 years, range 2-49 years), were included. There was a wide spectrum of impairments in mental functions. Motor function impairments were present in four patients, and mild speech impairments in eight patients. Additional care for sensory functions was uncommon. All patients needed a diet, which care is scored in the physical health domain. Conclusions: Apart from the diet all patients need, classical galactosaemia leads to the need for additional care mainly in the domains of m...Continue Reading

References

Jul 14, 2006·Journal of Inherited Metabolic Disease·Annet M Bosch
May 11, 2007·Developmental Medicine and Child Neurology·Anke Meester-DelverMijna Hadders-Algra
May 23, 2007·Archives of Disease in Childhood·John GibbsRichard Appleton
May 7, 2009·Developmental Medicine and Child Neurology·Anke Meester-DelverJan Willem Gorter
Jan 28, 2010·Clinical Rehabilitation·Anke Meester-DelverJules Becher
Nov 20, 2016·Journal of Inherited Metabolic Disease·Lindsey WellingUNKNOWN Galactosemia Network (GalNet)

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Citations

Feb 9, 2020·Orphanet Journal of Rare Diseases·Mendy M Welsink-KarssiesAnnet M Bosch

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