Fragile X Syndrome and Fetal Alcohol Syndrome: Occurrence of Dual Diagnosis in a Set of Triplets.
J Dev Behav Pediatr
; 44(7): e470-e475, 2023 09 01.
Article
en En
| MEDLINE
| ID: mdl-37556593
ABSTRACT
BACKGROUND:
Fragile X syndrome (FXS) and fetal alcohol syndrome disorders are both common causes of intellectual disability in children. When both conditions are present in the same individual, the resultant phenotype may make identification of clinical issues and management challenging. CASE PRESENTATION In this case report, we present a case of triplets who had significant in utero alcohol exposure; 2 of whom also have FXS and the other not having the fragile X mutation. The siblings with FXS have subtle differences in the physical phenotype compared with the other one, who has prominent features of partial fetal alcohol syndrome instead. However, all 3 siblings have intellectual impairment (although this is more severe in the 2 with FXS), meet diagnostic criteria for autism spectrum disorder, and present with severe behavioral challenges. The clinical presentation of the 2 siblings with FXS is much more severe as compared to a child with FXS alone, and this is likely due to the additive effect of in utero alcohol exposure and environmental factors. We discuss the combination of these 2 pathologies and how this can affect the overall clinical presentation.CONCLUSION:
In the management of children with FXS, evaluation for other risk factors that can have neurobehavioral sequelae is important, and these can affect clinical presentation and prognosis.
Texto completo:
1
Base de datos:
MEDLINE
Asunto principal:
Trastornos Relacionados con Sustancias
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Trastornos del Espectro Alcohólico Fetal
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Trastorno del Espectro Autista
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Síndrome del Cromosoma X Frágil
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Discapacidad Intelectual
Tipo de estudio:
Diagnostic_studies
/
Etiology_studies
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Prognostic_studies
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Risk_factors_studies
Idioma:
En
Revista:
J Dev Behav Pediatr
Año:
2023
Tipo del documento:
Article