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The need for additional care in patients with classical galactosaemia

Welling, L., Meester-Delver, A., Derks, T. G., Janssen, M. C. H., Hollak, C. E. M., de Vries, M. & Bosch, A. M., 23-Oct-2019, In : Disability and Rehabilitation. 41, 22, p. 2663-2668 6 p.

Research output: Contribution to journalArticleAcademicpeer-review

  • Lindsey Welling
  • Anke Meester-Delver
  • Terry G Derks
  • Mirian C H Janssen
  • Carla E M Hollak
  • Maaike de Vries
  • Annet M Bosch

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 mental functions and speech and voice functions. Implications for rehabilitation The Capacity Profile is a useful tool to demonstrate additional care needs in classical galactosaemia. In classical galactosaemia additional care is mostly indicated by mental impairments and speech and voice functions. One-fifth of patients have impairment of speech and voice functions at time of the study, and half of all patients had received speech therapy in childhood. Over 70% of patients need additional care/help due to impairment of mental functions, ranging from coaching due to social vulnerability to full day care.

Original languageEnglish
Pages (from-to)2663-2668
Number of pages6
JournalDisability and Rehabilitation
Volume41
Issue number22
Publication statusPublished - 23-Oct-2019

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