Recurrent fractures as a new skeletal problem in the course of Angelman syndrome

Rusińska, Agnieszka; Dzwonek, Agnieszka B.; Chlebna-Sokół, Danuta

doi:10.1016/j.bone.2013.04.004

Cited by 2 publications

(5 citation statements)

References 8 publications

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“…But that does not explain why children with a deletion are more severely affected, even after adjustment for mobility and ASM use. Furthermore, it is remarkable that BHI-SDS is already lower than normal at a young age in all children with ASA role for UBE3A gene dysfunction with effect on nuclear hormone receptor function and possible effect on vitamin D and hormone function related to bone turnover has been suggested [ 10 ]. A recent mouse model study confirmed that UBE3A protein is involved in the nuclear hormone receptor function and cholesterol synthesis [ 32 ].…”

Section: Discussionmentioning

confidence: 99%

“…Low bone health and fractures in people with AS have not been frequently reported. A case report described a girl with recurrent fractures [ 10 ]. Coppola et al described a cohort of 18 AS patients, all walking, in whom 44% had a low bone mineral density (BMD) on dual-energy X-ray absorptiometry (DEXA).…”

Section: Introductionmentioning

confidence: 99%

“…An abnormal BMD was also found in 38% of 18 children with idiopathic epilepsy without AS, but decrease in BMD was less pronounced. A possible primary factor of the syndrome itself was suggested [ 10 ]. A study in a larger population including a longitudinal perspective on bone health in children with AS was never performed.…”

Section: Introductionmentioning

confidence: 99%

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Bone health in children with Angelman syndrome at the ENCORE Expertise Center

Bindels-de Heus,

Hagenaar,

Mous

et al. 2023

Eur J Pediatr

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Angelman syndrome (AS) is a rare genetic disorder due to lack of UBE3A function on chromosome 15q11.2q13 caused by a deletion, uniparental paternal disomy (UPD), imprinting center disorder (ICD), or pathological variant of the UBE3A gene. AS is characterized by developmental delay, epilepsy, and lack of speech. Although fractures are observed frequently in our clinical practice, there are few studies on bone health in AS. The aim of this study is to investigate bone health in children with AS. In this prospective cohort study, we describe bone health in 91 children with AS visiting the ENCORE Expertise Center for AS between April 2010 and December 2021. Bone health was assessed with the bone health index (BHI) in standard deviation score (SDS) measured by digital radiogrammetry of the left hand using BoneXpert software. Risk factors analyzed were age, sex, genetic subtype, epilepsy, anti-seizure medication use, mobility, body mass index (BMI), and onset of puberty. Children with AS had a mean BHI of −1.77 SDS (SD 1.4). A significantly lower BHI was found in children with a deletion (−2.24 SDS) versus non-deletion (−1.02 SDS). Other factors associated with reduced BHI-SDS were inability to walk and late onset of puberty. Children with a history of one or more fractures (22%) had a significantly lower BHI than children without fractures (−2.60 vs −1.56 SDS). Longitudinal analysis showed a significant decrease in BHI-SDS with age in all genetic subtypes. Conclusions: Children with AS have a reduced bone health. Risk factors are deletion genotype, no independent walking, and late onset of puberty. Bone health decreased significantly with age. What is Known:• Children with neurological disorders often have a low bone health and higher risk of fractures.• Little is known about bone health in children with Angelman syndrome (AS). What is New:• Children with AS showed a reduced bone health and this was significantly associated with having a deletion, not being able to walk independently, and late onset of puberty.• Longitudinal analysis showed a significant decrease in bone health as children got older.

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Section: Discussionmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

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Bone health in children with Angelman syndrome at the ENCORE Expertise Center

Bindels-de Heus,

Hagenaar,

Mous

et al. 2023

Eur J Pediatr

View full text Add to dashboard Cite

show abstract

“…But that does not explain why children with a deletion are more severely affected, even after adjustment for mobility and ASM use. Furthermore, it is remarkable that BHI-SDS is already lower than normal at a young age in all children with ASA role for UBE3A gene dysfunction with effect on nuclear hormone receptor function and possible effect on vitamin D and hormone function related to bone turnover has been suggested [10]. A recent mouse model study con rmed that UBE3A is involved in the nuclear hormone receptor function and cholesterol synthesis [31] (64).…”

Section: Discussionmentioning

confidence: 99%

“…Low bone health and fractures in people with AS has not been frequently reported. A case report described a girl with recurrent fractures [10]. Coppola et al described a cohort of 18 AS patients, all walking, in whom 44% had a low bone mineral density (BMD) on dual-energy x-ray absorptiometry (DEXA).…”

Section: Introductionmentioning

confidence: 99%

Bone health in children with Angelman Syndrome at the ENCORE Expertise Center

Heus

Hagenaar

Mous

et al. 2023

Preprint

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Purpose Angelman Syndrome (AS) is a rare genetic disorder due to lack of UBE3A function on chromosome 15q11.2q13 caused by a deletion, uniparental paternal disomy (UPD), imprinting center disorder (ICD) or pathological variant of the UBE3A gene. AS is characterized by developmental delay, epilepsy, and lack of speech. Although fractures are reported frequently in clinical practice, there are few studies on bone health in AS. The aim of this study is to investigate bone health in children with AS. Methods Prospective cohort study of 91 children with AS visiting the ENCORE Expertise Center for AS between April 2010 and December 2021. Bone health was assessed with the Bone Health Index (BHI) in standard deviation score (SDS) measured by digital radiogrammetry of the left hand using BoneXpert software. Risk factors analyzed were age, sex, genetic subtype, epilepsy, anti-seizure medication (ASM) use, mobility, BMI, and onset of puberty. Results Children with AS had a mean BHI of -1.77 SDS (SD 1.4). A significantly lower BHI was found in children with a deletion (-2.24 SDS) versus non-deletion (-1.02 SDS). Other factors associated with reduced BHI-SDS were inability to walk and late onset of puberty. Children with a history of one or more fractures (22%) had a significantly lower BHI than children without fractures (-2.60 vs -1.56 SDS). Longitudinal analysis showed a significant decrease in BHI-SDS with age in all genetic subtypes. Conclusions Children with AS have a reduced bone health. Risk factors are deletion genotype, no independent walking, and late onset of puberty. Bone health decreased significantly with age.

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Recurrent fractures as a new skeletal problem in the course of Angelman syndrome

Cited by 2 publications

References 8 publications

Bone health in children with Angelman syndrome at the ENCORE Expertise Center

Bone health in children with Angelman syndrome at the ENCORE Expertise Center

Bone health in children with Angelman Syndrome at the ENCORE Expertise Center

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