Fragile x facial

Cornelia C. Collectively, this group comprises the 3 faces of fragile X. Even though the 3 conditions share a common genetic defect, each one is a separate health condition that results in a variety of body function impairments such as motor delay, musculoskeletal issues related to low muscle tone, coordination limitations, ataxia, tremor, undefined muscle aches and pains, and, for FXTAS, a late-onset neurodegeneration. Although each FXD condition may benefit from physical therapy intervention, available evidence as to the efficacy of intervention appropriate to FXDs is lacking. This perspective article will discuss the genetic basis of FMR1 gene dysfunction and describe health conditions related to this mutation, which have a range of expressions within a family. Physical therapy concerns and possible assessment and intervention strategies will be introduced.
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Craniofacial characteristics of fragile X syndrome in mouse and man

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Craniofacial characteristics of fragile X syndrome in mouse and man

Virtually all of my previous columns have addressed in one way or another the behavioral issues of males with Fragile X syndrome FXS. That is largely because males experience both greater frequency and greater severity of symptoms. However, females with FXS do present a variety of challenges as well so this special expanded column is dedicated to addressing them. Females with FXS show a high frequency of avoidant behavior, mood disorders, attention deficits, and learning disabilities. They are significantly more withdrawn and depressed than their typical cohorts. This makes them most vulnerable to social anxiety and avoidance.
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The Unique Challenges for Females with Fragile X Syndrome

Related Editorial. To complement the Annual Clinical Focus on medical genomics, AFP will be publishing a series of short reviews on genetic syndromes. This series was designed to increase awareness of these diseases so that family physicians can recognize and diagnose children with these disorders and understand the kind of care they might require in the future.
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Fragile X syndrome is a genetic condition that causes a range of developmental problems including learning disabilities and cognitive impairment. Usually, males are more severely affected by this disorder than females. Affected individuals usually have delayed development of speech and language by age 2. Most males with fragile X syndrome have mild to moderate intellectual disability, while about one-third of affected females are intellectually disabled.
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