Quality of Life in Chronic Ketogenic Diet Treatment: The GLUT1DS Population Perspective.
Adolescent
Carbohydrate Metabolism, Inborn Errors
/ diet therapy
Child
Child, Preschool
Diet, Ketogenic
/ psychology
Emotions
/ physiology
Female
Humans
Male
Monosaccharide Transport Proteins
/ deficiency
Movement Disorders
/ epidemiology
Parents
Quality of Life
Seizures
/ epidemiology
Surveys and Questionnaires
Treatment Outcome
Young Adult
GLUT1 deficiency syndrome
PedsQol 4.0
health related quality of life
ketogenic diet treatment
Journal
Nutrients
ISSN: 2072-6643
Titre abrégé: Nutrients
Pays: Switzerland
ID NLM: 101521595
Informations de publication
Date de publication:
19 Jul 2019
19 Jul 2019
Historique:
received:
23
05
2019
revised:
10
07
2019
accepted:
17
07
2019
entrez:
24
7
2019
pubmed:
25
7
2019
medline:
11
1
2020
Statut:
epublish
Résumé
Glucose transporter type 1 deficiency syndrome (GLUT1DS) is a rare, genetically determined neurological disorder, for which Ketogenic Diet (KD) represents the gold standard life-long treatment. The aim of this study is to investigate health related quality of life in a well characterized cohort of patients affected by GLUT1DS treated with KD, evaluating factors that can influence patients' and parents' quality of life perception. This is a double center exploratory research study. A postal survey with auto-administrable questionnaires was conducted among 17 subjects (aged 3-22 years) with diagnosis of GLUT1DS, receiving a stable KD treatment for more than 1 year. The Pediatric Quality of Life Inventory (PedsQL) 4.0 Generic Core Scales was adopted. Clinical variables analyzed in relation to quality of life were frequency of epileptic seizures and movement disorder since KD introduction, presence of intellectual disability (ID), and KD ratio. Quality of life global scores were impaired both in parents' and children's perspectives, with a significant concordance. Taking into consideration subscales, the average was 64.17 (range 10-100) for physical functioning, 74.23 (range 30-100) for emotional functioning, 62.64 (range 10-100) for social functioning, and 56 (range 15-92) for school functioning. In patients with GLUT1DS the quality of life perception is comparable to that of other patients with chronic disease. In our sample, the presence of movement disorder seems to be a crucial element in quality of life perception.
Sections du résumé
BACKGROUND
BACKGROUND
Glucose transporter type 1 deficiency syndrome (GLUT1DS) is a rare, genetically determined neurological disorder, for which Ketogenic Diet (KD) represents the gold standard life-long treatment. The aim of this study is to investigate health related quality of life in a well characterized cohort of patients affected by GLUT1DS treated with KD, evaluating factors that can influence patients' and parents' quality of life perception.
METHODS
METHODS
This is a double center exploratory research study. A postal survey with auto-administrable questionnaires was conducted among 17 subjects (aged 3-22 years) with diagnosis of GLUT1DS, receiving a stable KD treatment for more than 1 year. The Pediatric Quality of Life Inventory (PedsQL) 4.0 Generic Core Scales was adopted. Clinical variables analyzed in relation to quality of life were frequency of epileptic seizures and movement disorder since KD introduction, presence of intellectual disability (ID), and KD ratio.
RESULTS
RESULTS
Quality of life global scores were impaired both in parents' and children's perspectives, with a significant concordance. Taking into consideration subscales, the average was 64.17 (range 10-100) for physical functioning, 74.23 (range 30-100) for emotional functioning, 62.64 (range 10-100) for social functioning, and 56 (range 15-92) for school functioning.
CONCLUSIONS
CONCLUSIONS
In patients with GLUT1DS the quality of life perception is comparable to that of other patients with chronic disease. In our sample, the presence of movement disorder seems to be a crucial element in quality of life perception.
Identifiants
pubmed: 31330987
pii: nu11071650
doi: 10.3390/nu11071650
pmc: PMC6682968
pii:
doi:
Substances chimiques
Monosaccharide Transport Proteins
0
Types de publication
Journal Article
Langues
eng
Sous-ensembles de citation
IM
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