Rett Syndrome and Menstruation

Hamilton, Amy; Marshal, Michael P.; Sucato, Gina S.; Murray, Pamela J.

doi:10.1016/j.jpag.2011.11.002

Cited by 23 publications

(19 citation statements)

References 12 publications

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“…Whilst this is reassuring in terms of normality, the needs of a family remain for adequate discussion and education with regard to their child. A few other studies report similar data [28,29,30]. …”

Section: Pubertal Problemssupporting

confidence: 70%

Endocrine Problems in Children and Adolescents Who Have Disabilities

Zacharin

2013

Horm Res Paediatr

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The consequences of disability span almost all aspects of life, for families and for an affected individual. Endocrine aspects of disability cover disorders of hypothalamic pituitary dysfunction, bone health, puberty, fertility, sexual function and contraceptive needs. Adequate endocrine assessment for a child with a disability requires extensive and sensitive history to address social issues, general nutrition, vitamin D status, specific hypothalamic pituitary problems, together with parental concerns regarding puberty and contraception. Bone health assessment includes history of minimal trauma fracture, need for intervention or fitness for surgery. Strategic interventions to improve outcome include management of puberty, vitamin D status, biomechanical stimulation with vibration and standing and possible consideration for bisphosphonate in special circumstances. Both early and late puberty cause major family concerns. The paediatrician must be aware of a range of management options to improve outcomes for the child and family.

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Section: Pubertal Problemssupporting

confidence: 70%

Endocrine Problems in Children and Adolescents Who Have Disabilities

Zacharin

2013

Horm Res Paediatr

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“…1 Multiple developmental issues are present in RTT, particularly growth retardation and orthopedic problems including scoliosis, bone under-mineralization, and joint contractures. 2-4 Studies of gonadal and adrenal steroids suggest normal sex hormones, 5 yet one study showed precocious pubertal onset with normal age of pubertal completion in a population of 494 girls with RTT, 6 and another supported these findings with endocrinological data in one case. 7 Neither pubertal trajectories nor factors associated with deviation in pubertal onset in RTT have been definitively characterized.…”

Section: Introductionmentioning

confidence: 84%

Pubertal Development in Rett Syndrome Deviates From Typical Females

Killian

Lane

Cutter

et al. 2014

Pediatric Neurology

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Background Rett syndrome is a unique neurodevelopmental disorder, affecting approximately 1 in 10,000 live female births, most experiencing reduced growth. We characterized pubertal trajectories in females with Rett syndrome. We hypothesized that pubertal trajectory deviates from the general female population with early pubertal onset and delayed menarche. Methods Participants were individuals enrolled in the Rett Syndrome Natural History Study with clinical diagnosis of Rett syndrome or mutations in MECP2. Intervals to thelarche, adrenarche, and menarche were assessed by survival analysis; BMI, mutation type, clinical severity, and pubertal milestone relationships were assessed by log-likelihood test; pathway synchrony (relationship between thelarche, adrenarche, and menarche) was assessed by Chi-squared analysis. Results Compared to the general female population, over 25% initiated puberty early, yet entered menarche later (median age 13.0 years). 19% experienced delayed menarche. Median length of puberty, from thelarche to menarche, was 3.9 years. Higher BMI correlated with earlier thelarche and adrenarche but not menarche; milder mutations correlated with earlier menarche; and milder clinical presentation correlated with earlier thelarche and menarche. Fifty-two percent entered puberty in synchrony, but differing from general population, 15% led with thelarche, and 32% with adrenarche. Conclusions Pubertal trajectories in Rett syndrome differ from general population, entering puberty early and reaching menarche later. BMI affects pubertal timing, but the relationship between specific mutations, clinical presentation, and underlying neuroendocrine pathology is less clear.

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“…Menstrual issues were also studied in a population of girls with Rett syndrome, who were commonly found to have dysmenorrhea and PMS, but did not routinely limit activities. 5 This will help care providers with anticipatory guidance, because many families of young women with developmental disorders are very concerned about menses and frequently seek care with the onset of pubertal signs, and before menarche because of these worries. 13,14 Because so many teens in this study were doing well without interventions, the common practice that puberty and menstruation should be allowed to progress naturally is supported.…”

Section: Discussionmentioning

confidence: 99%

“…1,2 There is evidence that some populations of women with developmental disabilities have particular difficulties with menstrual issues, including pain control, hygiene, and behavior issues. 3–5 It is not known if women with more significant cognitive impairment have greater difficulty with menstruation or experience a greater negative effect on home and school life.…”

Section: Introductionmentioning

confidence: 99%

The Effect of Menstrual Issues on Young Women with Angelman Syndrome

Kaskowitz

Dendrinos

Murray

et al. 2016

Journal of Pediatric and Adolescent Gynecology

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Study Objective To characterize menstrual health issues and their effect in young women with Angelman syndrome (AS). Our secondary objective was to compare them with young women with autism spectrum disorders (ASDs). Design Cross-sectional convenience sample survey. Setting An institutional review board–approved Web-based survey of young female members of the Angelman Syndrome Foundation. Participants Caregivers of young women with AS, aged 12–25 years. Interventions None. Main Outcome Measures Symptom characterization and effect of menses on young women with AS. Results Menstrual and premenstrual symptoms were common among young women with AS, but infrequently caused problems at home or school. Less than half of the subjects used hormones to control their flow. Of those who used hormones, 75% used them continuously. Caregivers were satisfied with their method to control periods. Girls with seizures were more likely to use hormonal methods to control menses than those without seizures. Menstrual-associated morbidity in young women with ASD and AS was fairly similar, but with greater morbidity in the ASD group than in the AS group. However, girls with AS had more problems with menstrual hygiene with almost all of them requiring full assistance for managing hygiene. Conclusion In this group of young women with AS, who have moderate to severe neurodevelopmental disabilities and cannot manage their own hygiene, menstruation is not associated with significant problems. Menstrual management by hormones is used by less than half. When hormonal therapy is used, it is most commonly used continuously to suppress menses.

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Rett Syndrome and Menstruation

Cited by 23 publications

References 12 publications

Endocrine Problems in Children and Adolescents Who Have Disabilities

Endocrine Problems in Children and Adolescents Who Have Disabilities

Pubertal Development in Rett Syndrome Deviates From Typical Females

The Effect of Menstrual Issues on Young Women with Angelman Syndrome

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