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Keywords:

  • ectodermal dysplasia;
  • psychosocial factors;
  • quality of life

Abstract

Ankyloblepharon-ectodermal defects-cleft lip/palate (AEC) syndrome, also known as Hay–Wells syndrome, is a rare genetic condition that results in abnormalities of the skin, hair, nails, and teeth and requires frequent self-management and medical care. We sought to describe the psychological adjustment and quality of life in children and adolescents with AEC syndrome, as well as the impact of the child's illness on their families. The sample included 18 children and adolescents with AEC syndrome and their parents who attended the International Research Symposium on AEC syndrome. Parents completed standardized self-report questionnaires about child and family functioning and participated in a semi-structured interview about the child's cognitive and social functioning and the impact of AEC syndrome on the child and family. Children completed standardized self-report questionnaires of psychosocial functioning and quality of life. Overall, results reflected a range of functioning across children and families, with some families reporting few ill effects of the condition and others describing reduced quality of life and negative impact on child and family. Identifying the domains that may be impacted should help clinicians better screen for problems in functioning of children affected by AEC syndrome and their families. © 2009 Wiley-Liss, Inc.