Actigraphic investigation of circadian rhythm functioning and activity levels in children with mucopolysaccharidosis type III (Sanfilippo syndrome) / R. A. MUMFORD in Journal of Neurodevelopmental Disorders, 7-1 (December 2015)  

Public ISBD [article]  inJournal of Neurodevelopmental Disorders > 7-1 (December 2015) . - p.31 Titre : Actigraphic investigation of circadian rhythm functioning and activity levels in children with mucopolysaccharidosis type III (Sanfilippo syndrome) Type de document : Texte imprimé et/ou numérique Auteurs : R. A. MUMFORD, Auteur ; L. V. MAHON, Auteur ; S. JONES, Auteur ; B. BIGGER, Auteur ; M. CANAL, Auteur ; D. J. HARE, Auteur Article en page(s) : p.31 Langues : Anglais (eng) Mots-clés : Actigraphy  Circadian rhythms  Mucopolysaccharidosis type III  Sanfilippo  Sleep Index. décimale : PER Périodiques Résumé : BACKGROUND: Sleep disturbance is part of the behavioural phenotype of the rare genetic condition mucopolysaccharidosis (MPS) type III. A growing body of evidence suggests that underlying disturbance in circadian rhythm functioning may explain sleep problems within the MPS III population. METHODS: Actigraphic data were recorded in eight children with MPS III over 7-10 days and compared to age-matched typically developing controls. Parameters of circadian rhythmicity and activity levels across a 24-h period were analysed. RESULTS: Statistically and clinically significant differences between the two groups were noted. Analysis indicated that children with MPS III showed significantly increased fragmentation of circadian rhythm and reduced stability with external cues (zeitgebers), compared to controls. Average times of activity onset and offset were indicative of a phase delayed sleep-wake cycle for some children in the MPS III group. Children with MPS III had significantly higher activity levels during the early morning hours (midnight-6 am) compared to controls. CONCLUSIONS: Results are consistent with previous research into MPS III and suggest that there is an impairment in circadian rhythm functioning in children with this condition. Implications for clinical practice and the management of sleep difficulties are discussed. En ligne : http://dx.doi.org/10.1186/s11689-015-9126-5 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=348 [article] Actigraphic investigation of circadian rhythm functioning and activity levels in children with mucopolysaccharidosis type III (Sanfilippo syndrome) [Texte imprimé et/ou numérique] / R. A. MUMFORD, Auteur ; L. V. MAHON, Auteur ; S. JONES, Auteur ; B. BIGGER, Auteur ; M. CANAL, Auteur ; D. J. HARE, Auteur . - p.31. Langues : Anglais (eng) in Journal of Neurodevelopmental Disorders > 7-1 (December 2015) . - p.31 Mots-clés : Actigraphy  Circadian rhythms  Mucopolysaccharidosis type III  Sanfilippo  Sleep Index. décimale : PER Périodiques Résumé : BACKGROUND: Sleep disturbance is part of the behavioural phenotype of the rare genetic condition mucopolysaccharidosis (MPS) type III. A growing body of evidence suggests that underlying disturbance in circadian rhythm functioning may explain sleep problems within the MPS III population. METHODS: Actigraphic data were recorded in eight children with MPS III over 7-10 days and compared to age-matched typically developing controls. Parameters of circadian rhythmicity and activity levels across a 24-h period were analysed. RESULTS: Statistically and clinically significant differences between the two groups were noted. Analysis indicated that children with MPS III showed significantly increased fragmentation of circadian rhythm and reduced stability with external cues (zeitgebers), compared to controls. Average times of activity onset and offset were indicative of a phase delayed sleep-wake cycle for some children in the MPS III group. Children with MPS III had significantly higher activity levels during the early morning hours (midnight-6 am) compared to controls. CONCLUSIONS: Results are consistent with previous research into MPS III and suggest that there is an impairment in circadian rhythm functioning in children with this condition. Implications for clinical practice and the management of sleep difficulties are discussed. En ligne : http://dx.doi.org/10.1186/s11689-015-9126-5 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=348

An investigation of the middle and late behavioural phenotypes of Mucopolysaccharidosis Type-III / E. M. CROSS in Journal of Neurodevelopmental Disorders, 6-1 (December 2014)  

Public ISBD [article]  inJournal of Neurodevelopmental Disorders > 6-1 (December 2014) . - p.46 Titre : An investigation of the middle and late behavioural phenotypes of Mucopolysaccharidosis Type-III Type de document : Texte imprimé et/ou numérique Auteurs : E. M. CROSS, Auteur ; S. GRANT, Auteur ; S. JONES, Auteur ; B. W. BIGGER, Auteur ; J. E. WRAITH, Auteur ; L. V. MAHON, Auteur ; M. LOMAX, Auteur ; D. J. HARE, Auteur Article en page(s) : p.46 Langues : Anglais (eng) Mots-clés : Behavioural phenotype  Mps iii  Mucopolysaccharidosis  Sanfilippo syndrome Index. décimale : PER Périodiques Résumé : BACKGROUND: Mucopolysaccharidosis type-III (MPS III) is an autosomal recessive lysosomal storage disorder. It causes progressive physical and cognitive decline and has been linked to increased incidences of behavioural problems. METHODS: Data on the behaviour and adaptive skills of 20 children with MPS III and 25 children with intellectual disability (ID) (17 included in analysis) were gathered via parental report questionnaire. The frequencies of different types of behaviour displayed by children with MPS III and children with ID were compared across two age categories. RESULTS: The total frequency of challenging behaviours displayed by children aged 2-9 years with MPS III and ID was not significantly different. Behaviours associated with hyperactivity, orality, unusual body movements and inattention were seen significantly more frequently in 2-9 year olds with MPS III than in those with ID. Children aged 10-15 years with MPS III showed significantly fewer problem behaviours than a contrasting group with ID. The frequency of challenging behaviours displayed by children with MPS III and their adaptive skills was found to decrease with age. CONCLUSIONS: Behaviours relating to hyperactivity, orality, unusual body movements and inattention are part of the behavioural phenotype of the middle phase of MPS III. The late phase of MPS III is associated with low rates of problem behaviour and loss of adaptive skills. Therefore, families with a child with MPS III may benefit from a different type of clinical service when the child is aged 2-9 years, than when aged 10-15 years. En ligne : http://dx.doi.org/10.1186/1866-1955-6-46 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=347 [article] An investigation of the middle and late behavioural phenotypes of Mucopolysaccharidosis Type-III [Texte imprimé et/ou numérique] / E. M. CROSS, Auteur ; S. GRANT, Auteur ; S. JONES, Auteur ; B. W. BIGGER, Auteur ; J. E. WRAITH, Auteur ; L. V. MAHON, Auteur ; M. LOMAX, Auteur ; D. J. HARE, Auteur . - p.46. Langues : Anglais (eng) in Journal of Neurodevelopmental Disorders > 6-1 (December 2014) . - p.46 Mots-clés : Behavioural phenotype  Mps iii  Mucopolysaccharidosis  Sanfilippo syndrome Index. décimale : PER Périodiques Résumé : BACKGROUND: Mucopolysaccharidosis type-III (MPS III) is an autosomal recessive lysosomal storage disorder. It causes progressive physical and cognitive decline and has been linked to increased incidences of behavioural problems. METHODS: Data on the behaviour and adaptive skills of 20 children with MPS III and 25 children with intellectual disability (ID) (17 included in analysis) were gathered via parental report questionnaire. The frequencies of different types of behaviour displayed by children with MPS III and children with ID were compared across two age categories. RESULTS: The total frequency of challenging behaviours displayed by children aged 2-9 years with MPS III and ID was not significantly different. Behaviours associated with hyperactivity, orality, unusual body movements and inattention were seen significantly more frequently in 2-9 year olds with MPS III than in those with ID. Children aged 10-15 years with MPS III showed significantly fewer problem behaviours than a contrasting group with ID. The frequency of challenging behaviours displayed by children with MPS III and their adaptive skills was found to decrease with age. CONCLUSIONS: Behaviours relating to hyperactivity, orality, unusual body movements and inattention are part of the behavioural phenotype of the middle phase of MPS III. The late phase of MPS III is associated with low rates of problem behaviour and loss of adaptive skills. Therefore, families with a child with MPS III may benefit from a different type of clinical service when the child is aged 2-9 years, than when aged 10-15 years. En ligne : http://dx.doi.org/10.1186/1866-1955-6-46 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=347

---

1 (1 - 2 / 2)