Comorbidities in Developmental Disorders – Chapter 7: Genetic Correlates of Psychiatric Comorbidity (ebook)


Chapter 7 of the book – Genetic Correlates of Psychiatric Comorbidity: Fragile X Syndrome

Fragile X syndrome (FXS) is the most common known inherited cause of intellectual disability. Although Down syndrome is more common, it is usually sporadic and not inherited from generation to generation affecting multiple members in a family (frequency of Down syndrome is 1/1000 relative to FXS 1/4000). Unlike trisomy 21, however, the genetic defect and phenotypic features of FXS have been less obvious to both the clinician and the research scientist for several reasons. Dr Turner described FXS as an X-linked mental retardation syndrome with macro-orchidism. Many of the classic features of FXS emerge in childhood after birth, such as the elongated, narrow face and large, prominent ears, making a defi nitive diagnosis at birth diffi cult without genetic testing.

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In the last decade the term ‚’comorbidity‚’ has gained popularity in the field of paediatric neurodisability, with the increasing recognition that many conditions are rarely present in isolation. Within this field, the term is often used to refer to the co-occurrence of conditions more frequently than would be expected by chance, which can include instances where one condition causes the other, where they share a common cause (for example, genetic), or where they are in fact manifestations of a single condition. Whether it is valid to use the term ‚’comorbidity‚’ in all these situations, and how precisely it should be used, is something that the contributors to this book grapple with in their own fields of interest. The contributors, all world experts in their fields, also discuss what we can learn from the presence of comorbidities, however defined, about the aetiology and treatment of neurodevelopmental disabilities. In particular, they demonstrate how our increasing understanding of the mechanisms underlying the common association of many ‘comorbidities‚’ is helping us to understand the natural history of these conditions and improve our management of them.

Paediatricians, paediatric neurologists, child psychiatrists, neurodevelopmentalists, and physical, occupational and speech therapists working with children with developmental disabilities.

Clinics in Developmental Medicine No. 187