Bone status in genetic syndromes: A review

Stagi, Stefano; Iurato, Chiara; Lapi, Elisabetta; Cavalli, Loredana; Brandi, Maria Luisa; Martino, Maurizio de

doi:10.1007/bf03401378

Cited by 18 publications

(11 citation statements)

References 81 publications

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“…Factors not specific to WS are also possible, since decreased BMD has been noted in other developmental disability syndromes such as Down, Prader-Willi, Turner and diGeorge, among others. Potential risk factors that cut across one or more of these disorders, and possibly extend to WS, include hypotonia, reduced physical activity, celiac disease, and perturbations in estrogen and/or testosterone ratios [Stagi and others 2015]. …”

Section: Discussionmentioning

confidence: 99%

Altered body composition, lipedema, and decreased bone density in individuals with Williams syndrome: A preliminary report

Waxler

Guardino

Feinn

et al. 2017

European Journal of Medical Genetics

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Section: Discussionmentioning

confidence: 99%

Altered body composition, lipedema, and decreased bone density in individuals with Williams syndrome: A preliminary report

Waxler

Guardino

Feinn

et al. 2017

European Journal of Medical Genetics

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“…To date, there has not been a systematic documentation of bone development in children and adolescents who have a DSD; however, decreased BMD is a common feature in adults with a DSD. Important factors that determine outcome with regard to bone strength are a late diagnosis, the type and severity of hormone deficiencies, the duration and doses of HRT, vitamin D status, physical activity, concomitant diseases, other medication and/or medications and heredity 107 .…”

Section: Bone Mineralization and Osteoporosismentioning

confidence: 99%

Caring for individuals with a difference of sex development (DSD): a Consensus Statement

et al. 2018

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The term differences of sex development (DSDs; also known as disorders of sex development) refers to a heterogeneous group of congenital conditions affecting human sex determination and differentiation. Several reports highlighting suboptimal physical and psychosexual outcomes in individuals who have a DSD led to a radical revision of nomenclature and management a decade ago. Whereas the resulting recommendations for holistic, multidisciplinary care seem to have been implemented rapidly in specialized paediatric services around the world, adolescents often experience difficulties in finding access to expert adult care and gradually or abruptly cease medical follow-up. Many adults with a DSD have health-related questions that remain unanswered owing to a lack of evidence pertaining to the natural evolution of the various conditions in later life stages. This Consensus Statement, developed by a European multidisciplinary group of experts, including patient representatives, summarizes evidence-based and experience-based recommendations for lifelong care and data collection in individuals with a DSD across ages and highlights clinical research priorities. By doing so, we hope to contribute to improving understanding and management of these conditions by involved medical professionals. In addition, we hope to give impetus to multicentre studies that will shed light on outcomes and comorbidities of DSD conditions across the lifespan.

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“…These observations raise questions over prescribing anti-absorptive bone therapy in this population and suggest the use of other interventions -such as regular physical activity -as a means of increasing bone density in adults with DS. [23][24][25] Cardiac diseases…”

Section: Endocrine Diseasesmentioning

confidence: 99%

Down syndrome in adults: success and challenge

Gorzoni¹,

Pinto²,

Ferreira³

2019

Geriatr., Gerontol. Aging

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A estimativa da sobrevida média de indivíduos com síndrome de Down (SD) passa atualmente dos 50 anos de idade. Esse dado demográfico justifica a atenção de profissionais da saúde que prestarão cuidados a um número crescente de adultos com SD. A avaliação clínica desse grupo de pacientes adultos deve correlacionar características inerentes à faixa etária, principalmente as peculiaridades produzidas pela síndrome. O presente artigo propõe o desenvolvimento de programas de prevenção e vacinação-conforme gênero e idade-e triagem de doenças e quadros associados à síndrome: 1) doenças endócrinas; 2) doenças cardíacas; 3) saúde mental; 4) saúde bucal; 5) órgãos sensoriais; 6) anomalias osteoarticulares; 7) pele e anexos; 8) doenças gastrointestinais; 9) câncer. Entretanto, há poucas informações sobre o impacto das comorbidades na expectativa de vida e na qualidade de vida, além dos custos hospitalares e sociais de adultos com SD.

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Bone status in genetic syndromes: A review

Cited by 18 publications

References 81 publications

Altered body composition, lipedema, and decreased bone density in individuals with Williams syndrome: A preliminary report

Altered body composition, lipedema, and decreased bone density in individuals with Williams syndrome: A preliminary report

Caring for individuals with a difference of sex development (DSD): a Consensus Statement

Down syndrome in adults: success and challenge

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