Recurrent Otitis Media in the Fragile X Syndrome

Hagerman, Randi J.; Altshul‐Stark, Debra; McBogg, Pamela

doi:10.1001/archpedi.1987.04460020074031

Cited by 29 publications

(39 citation statements)

References 27 publications

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“…8 In boys with FXS, ∼45% to 63% have recurrent OM, compared with 15% of their typical siblings and 38% of children with ID who do not have FXS. 8,18,19 In typically developing children, OM incidence during the first year of life ranges from 21% to 64%, and ∼12.6% of 2-to 3-year-olds have recurrent OM. 20 In the FXCRC Database (Table 1), recurrent OM is noted to have occurred in 54.7% of male and 45.8% of female patients, which is similar to previous studies in children with FXS 8, 18,19 but more frequent than in typically developing children.…”

Section: Ear Nose and Throat Disordersmentioning

confidence: 99%

Fragile X Syndrome: A Review of Associated Medical Problems

et al. 2014

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Fragile X syndrome (FXS) is the most common known genetic cause of inherited intellectual disability and the most common known singlegene cause of autism spectrum disorder. It has been reported that a spectrum of medical problems are commonly experienced by people with FXS, such as otitis media, seizures, and gastrointestinal problems. Previous studies examining the prevalence of medical problems related to FXS have been challenging to interpret because of their marked differences in population, setting, and sampling. Through this comprehensive review, we update the literature by reviewing studies that have reported on prominent medical problems associated with FXS. We then compare prevalence results from those studies with results from a large cross-sectional database consisting of data collected by fragile X clinics that specialize in the care of children with FXS and are part of the Fragile X Clinical and Research Consortium. It is vital for pediatricians and other clinicians to be familiar with the medical problems related to FXS so that affected patients may receive proper diagnosis and treatment; improved care may lead to better quality of life for these patients and their families. Pediatrics 2014;134:995-1005

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Section: Ear Nose and Throat Disordersmentioning

confidence: 99%

Fragile X Syndrome: A Review of Associated Medical Problems

et al. 2014

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“…Aggressive use of PE tubes for a conductive hearing loss is essential in early childhood [Hagerman et al, 1987]. ADHD can be significantly improved with medication, including stimulants and/or clonidine [Hagerman, 1996b;Hagerman et al, 1988Hagerman et al, , 1995.…”

Section: Interventionmentioning

confidence: 99%

Language and communication in fragile X syndrome

Abbeduto

Hagerman

1997

Ment. Retard. Dev. Disabil. Res. Rev.

115

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In this article, we describe the language and communication problems of individuals with fragile X syndrome (FXS). FXS is a common genetic disorder resulting from a single‐gene mutation on the X chromosome. It is associated with a wide spectrum of physical, behavioral, cognitive, and language problems. Males are typically more severely affected than females, with the vast majority of males having mental retardation. Language and communication are negatively affected by problems in oral‐motor structure and function and by conductive hearing loss associated with recurrent otitis media. Speech problems of males with FXS include variability in rate and stuttering‐like repetition of sounds. The pattern of speech problems displayed by males is unique to FXS and may reflect a form of developmental dyspraxia. Lexical development is serious delayed in males with FXS. It is less clear, however, whether lexical development keeps pace with achievements in cognitive development and whether receptive and expressive vocabularies are equally impaired. Morphosyntactic development is delayed in males with FXS, with receptive morphosyntax being mental‐age‐appropriate. It is less clear whether expressive morphosyntactic keeps pace with mental age in affected males. Communication problems are characteristic of both males and females and include features that are syndrome‐specific. Most notable among the features displayed by males with FXS is perseveration on a word, phrase, or topic in conversation. Several hypotheses have been advanced to explain this perseveration, but the most promising focus is on hyperarousal and frontal‐lobe‐executive function deficits. Females with FXS display a run‐on, disorganized, and tangential style of conversation that may result from their well‐documented frontal‐lobe‐executive function deficits. Language and communication intervention for affected individuals requires coordination of medical and behavioral approaches, with the involvement of professionals from several disciplines. Future research must focus on females, on language problems suggested by clinical experience, and on connections between language and communication problems and problems at the neurological and molecular genetic levels. MRDD Research Reviews 1997;3:313–322. © 1997 Wiley‐Liss, Inc.

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“…Recurrent otitis media and recurrent sinusitis are common during childhood. 8 Joint laxity with hyperextensibility finger joints and pes planus (flat feet) may be present and usually improve with age. 9 Gastroesophageal reflux disease occurs in a third of young infants with FXS, and may present with irritability or recurrent emesis.…”

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confidence: 99%

Fragile X syndrome

2008

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In association withFragile X syndrome Fragile X syndrome, an X-linked dominant disorder with reduced penetrance, is associated with intellectual and emotional disabilities ranging from learning problems to mental retardation, and mood instability to autism. It is most often caused by the transcriptional silencing of the FMR1 gene, due to an expansion of a CGG repeat found in the 5 0 -untranslated region. The FMR1 gene product, FMRP, is a selective RNA-binding protein that negatively regulates local protein synthesis in neuronal dendrites. In its absence, the transcripts normally regulated by FMRP are over translated. The resulting over abundance of certain proteins results in reduced synaptic strength due to AMPA receptor trafficking abnormalities that lead, at least in part, to the fragile X phenotype.

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Recurrent Otitis Media in the Fragile X Syndrome

Cited by 29 publications

References 27 publications

Fragile X Syndrome: A Review of Associated Medical Problems

Fragile X Syndrome: A Review of Associated Medical Problems

Language and communication in fragile X syndrome

Fragile X syndrome

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