Patients with rett syndrome sustain low-energy fractures

Gitte Roende; Kirstine Ravn; Kathrine Fuglsang; Henrik Andersen; Aage Vestergaard; Karen Brøndum-Nielsen; Jens-Erik Beck Jensen; Jytte Bieber Nielsen

doi:10.1203/PDR.0b013e31820bc6d3

Patients with rett syndrome sustain low-energy fractures

Gitte Roende, Kirstine Ravn, Kathrine Fuglsang, Henrik Andersen, Aage Vestergaard, Karen Brøndum-Nielsen, Jens-Erik Beck Jensen, Jytte Bieber Nielsen

Medical Genetics Program

17 Citations (Scopus)

Abstract

We present the first case-control study addressing both fracture occurrence and fracture mechanisms in Rett syndrome (RTT). Two previous studies have shown increased fracture risk in RTT. This was also our hypothesis regarding the Danish RTT population. Therefore, we investigated risk factors associated with low-energy trauma and the association to methyl-CpG-binding protein 2 (MECP2) mutations. A total of 61 female patients with RTT and 122 healthy controls matched according to age and pubertal/menopause status were examined by questionnaires, bone biochemical markers in blood, and clinical and x-ray evaluations. National register search on fracture diagnoses was done to obtain complete fracture histories. Our results showed that patients with RTT sustained significantly more low-energy fractures from early age compared with controls, even though overall fracture occurrence apparently was not increased. Low-energy fractures were significantly associated with less mobility and lack of ambulation. Associations with MECP2 mutations or epilepsy were not demonstrated, contrary to previous findings. Blood biochemistry indicated a possible need for D vitamin supplementation in RTT. Our study casts light on fracture occurrence in RTT and points to a need for future research in bone development and fracture risk to establish directions for improved prevention and treatment of low-energy fractures in RTT.

Original language	English
Journal	Current Pediatric Research
Volume	69
Issue number	4
Pages (from-to)	359-64
Number of pages	6
ISSN	0971-9032
DOIs	https://doi.org/10.1203/PDR.0b013e31820bc6d3
Publication status	Published - 1 Apr 2011

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title = "Patients with rett syndrome sustain low-energy fractures",

abstract = "We present the first case-control study addressing both fracture occurrence and fracture mechanisms in Rett syndrome (RTT). Two previous studies have shown increased fracture risk in RTT. This was also our hypothesis regarding the Danish RTT population. Therefore, we investigated risk factors associated with low-energy trauma and the association to methyl-CpG-binding protein 2 (MECP2) mutations. A total of 61 female patients with RTT and 122 healthy controls matched according to age and pubertal/menopause status were examined by questionnaires, bone biochemical markers in blood, and clinical and x-ray evaluations. National register search on fracture diagnoses was done to obtain complete fracture histories. Our results showed that patients with RTT sustained significantly more low-energy fractures from early age compared with controls, even though overall fracture occurrence apparently was not increased. Low-energy fractures were significantly associated with less mobility and lack of ambulation. Associations with MECP2 mutations or epilepsy were not demonstrated, contrary to previous findings. Blood biochemistry indicated a possible need for D vitamin supplementation in RTT. Our study casts light on fracture occurrence in RTT and points to a need for future research in bone development and fracture risk to establish directions for improved prevention and treatment of low-energy fractures in RTT.",

author = "Gitte Roende and Kirstine Ravn and Kathrine Fuglsang and Henrik Andersen and Aage Vestergaard and Karen Br{\o}ndum-Nielsen and Jensen, {Jens-Erik Beck} and Nielsen, {Jytte Bieber}",

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T1 - Patients with rett syndrome sustain low-energy fractures

AU - Roende, Gitte

AU - Ravn, Kirstine

AU - Fuglsang, Kathrine

AU - Andersen, Henrik

AU - Vestergaard, Aage

AU - Brøndum-Nielsen, Karen

AU - Jensen, Jens-Erik Beck

AU - Nielsen, Jytte Bieber

PY - 2011/4/1

Y1 - 2011/4/1

N2 - We present the first case-control study addressing both fracture occurrence and fracture mechanisms in Rett syndrome (RTT). Two previous studies have shown increased fracture risk in RTT. This was also our hypothesis regarding the Danish RTT population. Therefore, we investigated risk factors associated with low-energy trauma and the association to methyl-CpG-binding protein 2 (MECP2) mutations. A total of 61 female patients with RTT and 122 healthy controls matched according to age and pubertal/menopause status were examined by questionnaires, bone biochemical markers in blood, and clinical and x-ray evaluations. National register search on fracture diagnoses was done to obtain complete fracture histories. Our results showed that patients with RTT sustained significantly more low-energy fractures from early age compared with controls, even though overall fracture occurrence apparently was not increased. Low-energy fractures were significantly associated with less mobility and lack of ambulation. Associations with MECP2 mutations or epilepsy were not demonstrated, contrary to previous findings. Blood biochemistry indicated a possible need for D vitamin supplementation in RTT. Our study casts light on fracture occurrence in RTT and points to a need for future research in bone development and fracture risk to establish directions for improved prevention and treatment of low-energy fractures in RTT.

AB - We present the first case-control study addressing both fracture occurrence and fracture mechanisms in Rett syndrome (RTT). Two previous studies have shown increased fracture risk in RTT. This was also our hypothesis regarding the Danish RTT population. Therefore, we investigated risk factors associated with low-energy trauma and the association to methyl-CpG-binding protein 2 (MECP2) mutations. A total of 61 female patients with RTT and 122 healthy controls matched according to age and pubertal/menopause status were examined by questionnaires, bone biochemical markers in blood, and clinical and x-ray evaluations. National register search on fracture diagnoses was done to obtain complete fracture histories. Our results showed that patients with RTT sustained significantly more low-energy fractures from early age compared with controls, even though overall fracture occurrence apparently was not increased. Low-energy fractures were significantly associated with less mobility and lack of ambulation. Associations with MECP2 mutations or epilepsy were not demonstrated, contrary to previous findings. Blood biochemistry indicated a possible need for D vitamin supplementation in RTT. Our study casts light on fracture occurrence in RTT and points to a need for future research in bone development and fracture risk to establish directions for improved prevention and treatment of low-energy fractures in RTT.

U2 - 10.1203/PDR.0b013e31820bc6d3

DO - 10.1203/PDR.0b013e31820bc6d3

M3 - Journal article

C2 - 21178819

SN - 0971-9032

VL - 69

SP - 359

EP - 364

JO - Current Pediatric Research

JF - Current Pediatric Research

IS - 4

ER -

Patients with rett syndrome sustain low-energy fractures

Abstract

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